WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43199404G>A | CA4737017 | HGSNAT | c.1743G>A (p.Leu581=) n.1059G>A c.894G>A (p.Leu298=) c.1854G>A (p.Leu618=) c.1830G>A (p.Leu610=) c.1662G>A (p.Leu554=) c.1551G>A (p.Leu517=) c.879G>A (p.Leu293=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43199404G>C | CA4737018 | HGSNAT | c.1743G>C (p.Leu581=) n.1059G>C c.894G>C (p.Leu298=) c.1854G>C (p.Leu618=) c.1830G>C (p.Leu610=) c.1662G>C (p.Leu554=) c.1551G>C (p.Leu517=) c.879G>C (p.Leu293=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43199404G= | CA1779777483 | HGSNAT | c.1743G= (p.Leu581=) n.1059G= c.894G= (p.Leu298=) c.1854G= (p.Leu618=) c.1830G= (p.Leu610=) c.1662G= (p.Leu554=) c.1551G= (p.Leu517=) c.879G= (p.Leu293=) | |
| 8 | g.43199404G>T | CA460580555 | HGSNAT | c.1743G>T (p.Leu581=) n.1059G>T c.894G>T (p.Leu298=) c.1854G>T (p.Leu618=) c.1830G>T (p.Leu610=) c.1662G>T (p.Leu554=) c.1551G>T (p.Leu517=) c.879G>T (p.Leu293=) | gnomAD v4 |
| 8 | g.43199405del | CA2687155811 | HGSNAT | c.1744del (p.Val582TyrfsTer18) n.1060del c.895del (p.Val299TyrfsTer18) c.1855del (p.Val619TyrfsTer18) c.1831del (p.Val611TyrfsTer18) c.1663del (p.Val555TyrfsTer18) c.1552del (p.Val518TyrfsTer18) c.880del (p.Val294TyrfsTer18) | gnomAD v4 |
| 8 | g.43199405G>A | CA371121080 | HGSNAT | c.1744G>A (p.Val582Ile) n.1060G>A c.895G>A (p.Val299Ile) c.1855G>A (p.Val619Ile) c.1831G>A (p.Val611Ile) c.1663G>A (p.Val555Ile) c.1552G>A (p.Val518Ile) c.880G>A (p.Val294Ile) | ClinVar |
| 8 | g.43199405G>C | CA371121083 | HGSNAT | c.1744G>C (p.Val582Leu) n.1060G>C c.895G>C (p.Val299Leu) c.1855G>C (p.Val619Leu) c.1831G>C (p.Val611Leu) c.1663G>C (p.Val555Leu) c.1552G>C (p.Val518Leu) c.880G>C (p.Val294Leu) | |
| 8 | g.43199405G>T | CA371121084 | HGSNAT | c.1744G>T (p.Val582Leu) n.1060G>T c.895G>T (p.Val299Leu) c.1855G>T (p.Val619Leu) c.1831G>T (p.Val611Leu) c.1663G>T (p.Val555Leu) c.1552G>T (p.Val518Leu) c.880G>T (p.Val294Leu) | gnomAD v4 |
| 8 | g.43199406T>A | CA371121087 | HGSNAT | c.1745T>A (p.Val582Glu) n.1061T>A c.896T>A (p.Val299Glu) c.1856T>A (p.Val619Glu) c.1832T>A (p.Val611Glu) c.1664T>A (p.Val555Glu) c.1553T>A (p.Val518Glu) c.881T>A (p.Val294Glu) | |
| 8 | g.43199406T>C | CA371121089 | HGSNAT | c.1745T>C (p.Val582Ala) n.1061T>C c.896T>C (p.Val299Ala) c.1856T>C (p.Val619Ala) c.1832T>C (p.Val611Ala) c.1664T>C (p.Val555Ala) c.1553T>C (p.Val518Ala) c.881T>C (p.Val294Ala) | gnomAD v4 |
| 8 | g.43199406T>G | CA371121091 | HGSNAT | c.1745T>G (p.Val582Gly) n.1061T>G c.896T>G (p.Val299Gly) c.1856T>G (p.Val619Gly) c.1832T>G (p.Val611Gly) c.1664T>G (p.Val555Gly) c.1553T>G (p.Val518Gly) c.881T>G (p.Val294Gly) | |
| 8 | g.43199407A>C | CA460580556 | HGSNAT | c.1746A>C (p.Val582=) n.1062A>C c.897A>C (p.Val299=) c.1857A>C (p.Val619=) c.1833A>C (p.Val611=) c.1665A>C (p.Val555=) c.1554A>C (p.Val518=) c.882A>C (p.Val294=) | |
| 8 | g.43199407A>G | CA460580557 | HGSNAT | c.1746A>G (p.Val582=) n.1062A>G c.897A>G (p.Val299=) c.1857A>G (p.Val619=) c.1833A>G (p.Val611=) c.1665A>G (p.Val555=) c.1554A>G (p.Val518=) c.882A>G (p.Val294=) | ClinVar gnomAD v4 |
| 8 | g.43199407A>T | CA460580558 | HGSNAT | c.1746A>T (p.Val582=) n.1062A>T c.897A>T (p.Val299=) c.1857A>T (p.Val619=) c.1833A>T (p.Val611=) c.1665A>T (p.Val555=) c.1554A>T (p.Val518=) c.882A>T (p.Val294=) | |
| 8 | g.43199408T>A | CA371121093 | HGSNAT | c.1747T>A (p.Tyr583Asn) n.1063T>A c.898T>A (p.Tyr300Asn) c.1858T>A (p.Tyr620Asn) c.1834T>A (p.Tyr612Asn) c.1666T>A (p.Tyr556Asn) c.1555T>A (p.Tyr519Asn) c.883T>A (p.Tyr295Asn) | |
| 8 | g.43199408T>C | CA371121096 | HGSNAT | c.1747T>C (p.Tyr583His) n.1063T>C c.898T>C (p.Tyr300His) c.1858T>C (p.Tyr620His) c.1834T>C (p.Tyr612His) c.1666T>C (p.Tyr556His) c.1555T>C (p.Tyr519His) c.883T>C (p.Tyr295His) | |
| 8 | g.43199408T>G | CA371121099 | HGSNAT | c.1747T>G (p.Tyr583Asp) n.1063T>G c.898T>G (p.Tyr300Asp) c.1858T>G (p.Tyr620Asp) c.1834T>G (p.Tyr612Asp) c.1666T>G (p.Tyr556Asp) c.1555T>G (p.Tyr519Asp) c.883T>G (p.Tyr295Asp) | |
| 8 | g.43199409A>C | CA371121103 | HGSNAT | c.1748A>C (p.Tyr583Ser) n.1064A>C c.899A>C (p.Tyr300Ser) c.1859A>C (p.Tyr620Ser) c.1835A>C (p.Tyr612Ser) c.1667A>C (p.Tyr556Ser) c.1556A>C (p.Tyr519Ser) c.884A>C (p.Tyr295Ser) | gnomAD v4 |
| 8 | g.43199409A>G | CA371121101 | HGSNAT | c.1748A>G (p.Tyr583Cys) n.1064A>G c.899A>G (p.Tyr300Cys) c.1859A>G (p.Tyr620Cys) c.1835A>G (p.Tyr612Cys) c.1667A>G (p.Tyr556Cys) c.1556A>G (p.Tyr519Cys) c.884A>G (p.Tyr295Cys) | |
| 8 | g.43199409A>T | CA371121100 | HGSNAT | c.1748A>T (p.Tyr583Phe) n.1064A>T c.899A>T (p.Tyr300Phe) c.1859A>T (p.Tyr620Phe) c.1835A>T (p.Tyr612Phe) c.1667A>T (p.Tyr556Phe) c.1556A>T (p.Tyr519Phe) c.884A>T (p.Tyr295Phe) | |
| 8 | g.43199410T>A | CA371121104 | HGSNAT | c.1749T>A (p.Tyr583Ter) n.1065T>A c.900T>A (p.Tyr300Ter) c.1860T>A (p.Tyr620Ter) c.1836T>A (p.Tyr612Ter) c.1668T>A (p.Tyr556Ter) c.1557T>A (p.Tyr519Ter) c.885T>A (p.Tyr295Ter) | gnomAD v4 |
| 8 | g.43199410T>C | CA149560 | HGSNAT | c.1749T>C (p.Tyr583=) n.1065T>C c.900T>C (p.Tyr300=) c.1860T>C (p.Tyr620=) c.1836T>C (p.Tyr612=) c.1668T>C (p.Tyr556=) c.1557T>C (p.Tyr519=) c.885T>C (p.Tyr295=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199410T>G | CA371121108 | HGSNAT | c.1749T>G (p.Tyr583Ter) n.1065T>G c.900T>G (p.Tyr300Ter) c.1860T>G (p.Tyr620Ter) c.1836T>G (p.Tyr612Ter) c.1668T>G (p.Tyr556Ter) c.1557T>G (p.Tyr519Ter) c.885T>G (p.Tyr295Ter) | |
| 8 | g.43199410T= | CA1779777484 | HGSNAT | c.1749T= (p.Tyr583=) n.1065T= c.900T= (p.Tyr300=) c.1860T= (p.Tyr620=) c.1836T= (p.Tyr612=) c.1668T= (p.Tyr556=) c.1557T= (p.Tyr519=) c.885T= (p.Tyr295=) | |
| 8 | g.43199410_43199411delinsCA | CA2580078321 | HGSNAT | c.1749_1750delinsCA (p.Val584Ile) n.1065_1066delinsCA c.900_901delinsCA (p.Val301Ile) c.1860_1861delinsCA (p.Val621Ile) c.1836_1837delinsCA (p.Val613Ile) c.1668_1669delinsCA (p.Val557Ile) c.1557_1558delinsCA (p.Val520Ile) c.885_886delinsCA (p.Val296Ile) | ClinVar |
| 8 | g.43199410_43199411insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC | CA1113295726 | HGSNAT | c.1749_1750insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC n.1065_1066insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC c.900_901insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC c.1860_1861insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC c.1836_1837insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC c.1668_1669insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC c.1557_1558insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC c.885_886insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC | gnomAD v3 gnomAD v4 |
| 8 | g.43199411del | CA2695209194 | HGSNAT | c.1750del (p.Val584SerfsTer16) n.1066del c.901del (p.Val301SerfsTer16) c.1861del (p.Val621SerfsTer16) c.1837del (p.Val613SerfsTer16) c.1669del (p.Val557SerfsTer16) c.1558del (p.Val520SerfsTer16) c.886del (p.Val296SerfsTer16) | |
| 8 | g.43199411G>A | CA4737019 | HGSNAT | c.1750G>A (p.Val584Ile) n.1066G>A c.901G>A (p.Val301Ile) c.1861G>A (p.Val621Ile) c.1837G>A (p.Val613Ile) c.1669G>A (p.Val557Ile) c.1558G>A (p.Val520Ile) c.886G>A (p.Val296Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199411G>C | CA371121110 | HGSNAT | c.1750G>C (p.Val584Leu) n.1066G>C c.901G>C (p.Val301Leu) c.1861G>C (p.Val621Leu) c.1837G>C (p.Val613Leu) c.1669G>C (p.Val557Leu) c.1558G>C (p.Val520Leu) c.886G>C (p.Val296Leu) | |
| 8 | g.43199411G= | CA1779777485 | HGSNAT | c.1750G= (p.Val584=) n.1066G= c.901G= (p.Val301=) c.1861G= (p.Val621=) c.1837G= (p.Val613=) c.1669G= (p.Val557=) c.1558G= (p.Val520=) c.886G= (p.Val296=) | |
| 8 | g.43199411G>T | CA371121113 | HGSNAT | c.1750G>T (p.Val584Phe) n.1066G>T c.901G>T (p.Val301Phe) c.1861G>T (p.Val621Phe) c.1837G>T (p.Val613Phe) c.1669G>T (p.Val557Phe) c.1558G>T (p.Val520Phe) c.886G>T (p.Val296Phe) | |
| 8 | g.43199412T>A | CA371121115 | HGSNAT | c.1751T>A (p.Val584Asp) n.1067T>A c.902T>A (p.Val301Asp) c.1862T>A (p.Val621Asp) c.1838T>A (p.Val613Asp) c.1670T>A (p.Val557Asp) c.1559T>A (p.Val520Asp) c.887T>A (p.Val296Asp) | |
| 8 | g.43199412T>C | CA371121117 | HGSNAT | c.1751T>C (p.Val584Ala) n.1067T>C c.902T>C (p.Val301Ala) c.1862T>C (p.Val621Ala) c.1838T>C (p.Val613Ala) c.1670T>C (p.Val557Ala) c.1559T>C (p.Val520Ala) c.887T>C (p.Val296Ala) | |
| 8 | g.43199412T>G | CA371121119 | HGSNAT | c.1751T>G (p.Val584Gly) n.1067T>G c.902T>G (p.Val301Gly) c.1862T>G (p.Val621Gly) c.1838T>G (p.Val613Gly) c.1670T>G (p.Val557Gly) c.1559T>G (p.Val520Gly) c.887T>G (p.Val296Gly) | gnomAD v4 |
| 8 | g.43199413C>A | CA460580561 | HGSNAT | c.1752C>A (p.Val584=) n.1068C>A c.903C>A (p.Val301=) c.1863C>A (p.Val621=) c.1839C>A (p.Val613=) c.1671C>A (p.Val557=) c.1560C>A (p.Val520=) c.888C>A (p.Val296=) | ClinVar gnomAD v4 |
| 8 | g.43199413C= | CA1779777486 | HGSNAT | c.1752C= (p.Val584=) n.1068C= c.903C= (p.Val301=) c.1863C= (p.Val621=) c.1839C= (p.Val613=) c.1671C= (p.Val557=) c.1560C= (p.Val520=) c.888C= (p.Val296=) | |
| 8 | g.43199413C>G | CA460580562 | HGSNAT | c.1752C>G (p.Val584=) n.1068C>G c.903C>G (p.Val301=) c.1863C>G (p.Val621=) c.1839C>G (p.Val613=) c.1671C>G (p.Val557=) c.1560C>G (p.Val520=) c.888C>G (p.Val296=) | |
| 8 | g.43199413C>T | CA4737020 | HGSNAT | c.1752C>T (p.Val584=) n.1068C>T c.903C>T (p.Val301=) c.1863C>T (p.Val621=) c.1839C>T (p.Val613=) c.1671C>T (p.Val557=) c.1560C>T (p.Val520=) c.888C>T (p.Val296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199414G>A | CA4737021 | HGSNAT | c.1753G>A (p.Gly585Ser) n.1069G>A c.904G>A (p.Gly302Ser) c.1864G>A (p.Gly622Ser) c.1840G>A (p.Gly614Ser) c.1672G>A (p.Gly558Ser) c.1561G>A (p.Gly521Ser) c.889G>A (p.Gly297Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199414G>C | CA371121124 | HGSNAT | c.1753G>C (p.Gly585Arg) n.1069G>C c.904G>C (p.Gly302Arg) c.1864G>C (p.Gly622Arg) c.1840G>C (p.Gly614Arg) c.1672G>C (p.Gly558Arg) c.1561G>C (p.Gly521Arg) c.889G>C (p.Gly297Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43199414G= | CA1779777487 | HGSNAT | c.1753G= (p.Gly585=) n.1069G= c.904G= (p.Gly302=) c.1864G= (p.Gly622=) c.1840G= (p.Gly614=) c.1672G= (p.Gly558=) c.1561G= (p.Gly521=) c.889G= (p.Gly297=) | |
| 8 | g.43199414G>T | CA371121126 | HGSNAT | c.1753G>T (p.Gly585Cys) n.1069G>T c.904G>T (p.Gly302Cys) c.1864G>T (p.Gly622Cys) c.1840G>T (p.Gly614Cys) c.1672G>T (p.Gly558Cys) c.1561G>T (p.Gly521Cys) c.889G>T (p.Gly297Cys) | gnomAD v4 |
| 8 | g.43199415G>A | CA371121134 | HGSNAT | c.1754G>A (p.Gly585Asp) n.1070G>A c.905G>A (p.Gly302Asp) c.1865G>A (p.Gly622Asp) c.1841G>A (p.Gly614Asp) c.1673G>A (p.Gly558Asp) c.1562G>A (p.Gly521Asp) c.890G>A (p.Gly297Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43199415G>C | CA371121130 | HGSNAT | c.1754G>C (p.Gly585Ala) n.1070G>C c.905G>C (p.Gly302Ala) c.1865G>C (p.Gly622Ala) c.1841G>C (p.Gly614Ala) c.1673G>C (p.Gly558Ala) c.1562G>C (p.Gly521Ala) c.890G>C (p.Gly297Ala) | |
| 8 | g.43199415G= | CA1779777488 | HGSNAT | c.1754G= (p.Gly585=) n.1070G= c.905G= (p.Gly302=) c.1865G= (p.Gly622=) c.1841G= (p.Gly614=) c.1673G= (p.Gly558=) c.1562G= (p.Gly521=) c.890G= (p.Gly297=) | |
| 8 | g.43199415G>T | CA371121131 | HGSNAT | c.1754G>T (p.Gly585Val) n.1070G>T c.905G>T (p.Gly302Val) c.1865G>T (p.Gly622Val) c.1841G>T (p.Gly614Val) c.1673G>T (p.Gly558Val) c.1562G>T (p.Gly521Val) c.890G>T (p.Gly297Val) | |
| 8 | g.43199416C>A | CA460580563 | HGSNAT | c.1755C>A (p.Gly585=) n.1071C>A c.906C>A (p.Gly302=) c.1866C>A (p.Gly622=) c.1842C>A (p.Gly614=) c.1674C>A (p.Gly558=) c.1563C>A (p.Gly521=) c.891C>A (p.Gly297=) | gnomAD v4 |
| 8 | g.43199416C>G | CA460580564 | HGSNAT | c.1755C>G (p.Gly585=) n.1071C>G c.906C>G (p.Gly302=) c.1866C>G (p.Gly622=) c.1842C>G (p.Gly614=) c.1674C>G (p.Gly558=) c.1563C>G (p.Gly521=) c.891C>G (p.Gly297=) | |
| 8 | g.43199416C>T | CA460580565 | HGSNAT | c.1755C>T (p.Gly585=) n.1071C>T c.906C>T (p.Gly302=) c.1866C>T (p.Gly622=) c.1842C>T (p.Gly614=) c.1674C>T (p.Gly558=) c.1563C>T (p.Gly521=) c.891C>T (p.Gly297=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43199417C>A | CA371121137 | HGSNAT | c.1756C>A (p.His586Asn) n.1072C>A c.907C>A (p.His303Asn) c.1867C>A (p.His623Asn) c.1843C>A (p.His615Asn) c.1675C>A (p.His559Asn) c.1564C>A (p.His522Asn) c.892C>A (p.His298Asn) |