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 |
|---|---|---|---|---|---|
| 14 | g.87945593C>A | CA390746036 | GALC | c.1630G>T (p.Asp544Tyr) c.1561G>T (p.Asp521Tyr) c.1552G>T (p.Asp518Tyr) c.1462G>T (p.Asp488Tyr) c.997G>T (p.Asp333Tyr) c.206+2135G>T c.*1028G>T (n.*1028G>T) | |
| 14 | g.87945593C= | CA2153356541 | GALC | c.1630G= (p.Asp544=) c.1561G= (p.Asp521=) c.1552G= (p.Asp518=) c.1462G= (p.Asp488=) c.997G= (p.Asp333=) c.206+2135G= c.*1028G= (n.*1028G=) | |
| 14 | g.87945593C>G | CA390746035 | GALC | c.1630G>C (p.Asp544His) c.1561G>C (p.Asp521His) c.1552G>C (p.Asp518His) c.1462G>C (p.Asp488His) c.997G>C (p.Asp333His) c.206+2135G>C c.*1028G>C (n.*1028G>C) | |
| 14 | g.87945593C>T | CA259863 | GALC | c.1630G>A (p.Asp544Asn) c.1561G>A (p.Asp521Asn) c.1552G>A (p.Asp518Asn) c.1462G>A (p.Asp488Asn) c.997G>A (p.Asp333Asn) c.206+2135G>A c.*1028G>A (n.*1028G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.87945594G>A | CA7296967 | GALC | c.1629C>T (p.Ala543=) c.1560C>T (p.Ala520=) c.1551C>T (p.Ala517=) c.1461C>T (p.Ala487=) c.996C>T (p.Ala332=) c.206+2134C>T c.*1027C>T (n.*1027C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945594G>C | CA487355499 | GALC | c.1629C>G (p.Ala543=) c.1560C>G (p.Ala520=) c.1551C>G (p.Ala517=) c.1461C>G (p.Ala487=) c.996C>G (p.Ala332=) c.206+2134C>G c.*1027C>G (n.*1027C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945594G= | CA2153356544 | GALC | c.1629C= (p.Ala543=) c.1560C= (p.Ala520=) c.1551C= (p.Ala517=) c.1461C= (p.Ala487=) c.996C= (p.Ala332=) c.206+2134C= c.*1027C= (n.*1027C=) | |
| 14 | g.87945594G>T | CA487355500 | GALC | c.1629C>A (p.Ala543=) c.1560C>A (p.Ala520=) c.1551C>A (p.Ala517=) c.1461C>A (p.Ala487=) c.996C>A (p.Ala332=) c.206+2134C>A c.*1027C>A (n.*1027C>A) | |
| 14 | g.87945595G>A | CA390746039 | GALC | c.1628C>T (p.Ala543Val) c.1559C>T (p.Ala520Val) c.1550C>T (p.Ala517Val) c.1460C>T (p.Ala487Val) c.995C>T (p.Ala332Val) c.206+2133C>T c.*1026C>T (n.*1026C>T) | gnomAD v4 |
| 14 | g.87945595G>C | CA390746037 | GALC | c.1628C>G (p.Ala543Gly) c.1559C>G (p.Ala520Gly) c.1550C>G (p.Ala517Gly) c.1460C>G (p.Ala487Gly) c.995C>G (p.Ala332Gly) c.206+2133C>G c.*1026C>G (n.*1026C>G) | |
| 14 | g.87945595G>T | CA390746038 | GALC | c.1628C>A (p.Ala543Asp) c.1559C>A (p.Ala520Asp) c.1550C>A (p.Ala517Asp) c.1460C>A (p.Ala487Asp) c.995C>A (p.Ala332Asp) c.206+2133C>A c.*1026C>A (n.*1026C>A) | |
| 14 | g.87945596C>A | CA390746040 | GALC | c.1627G>T (p.Ala543Ser) c.1558G>T (p.Ala520Ser) c.1549G>T (p.Ala517Ser) c.1459G>T (p.Ala487Ser) c.994G>T (p.Ala332Ser) c.206+2132G>T c.*1025G>T (n.*1025G>T) | |
| 14 | g.87945596C= | CA2153356545 | GALC | c.1627G= (p.Ala543=) c.1558G= (p.Ala520=) c.1549G= (p.Ala517=) c.1459G= (p.Ala487=) c.994G= (p.Ala332=) c.206+2132G= c.*1025G= (n.*1025G=) | |
| 14 | g.87945596C>G | CA390746041 | GALC | c.1627G>C (p.Ala543Pro) c.1558G>C (p.Ala520Pro) c.1549G>C (p.Ala517Pro) c.1459G>C (p.Ala487Pro) c.994G>C (p.Ala332Pro) c.206+2132G>C c.*1025G>C (n.*1025G>C) | |
| 14 | g.87945596C>T | CA7296968 | GALC | c.1627G>A (p.Ala543Thr) c.1558G>A (p.Ala520Thr) c.1549G>A (p.Ala517Thr) c.1459G>A (p.Ala487Thr) c.994G>A (p.Ala332Thr) c.206+2132G>A c.*1025G>A (n.*1025G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945597A>C | CA487355503 | GALC | c.1626T>G (p.Ala542=) c.1557T>G (p.Ala519=) c.1548T>G (p.Ala516=) c.1458T>G (p.Ala486=) c.993T>G (p.Ala331=) c.206+2131T>G c.*1024T>G (n.*1024T>G) | |
| 14 | g.87945597A>G | CA487355502 | GALC | c.1626T>C (p.Ala542=) c.1557T>C (p.Ala519=) c.1548T>C (p.Ala516=) c.1458T>C (p.Ala486=) c.993T>C (p.Ala331=) c.206+2131T>C c.*1024T>C (n.*1024T>C) | |
| 14 | g.87945597A>T | CA487355501 | GALC | c.1626T>A (p.Ala542=) c.1557T>A (p.Ala519=) c.1548T>A (p.Ala516=) c.1458T>A (p.Ala486=) c.993T>A (p.Ala331=) c.206+2131T>A c.*1024T>A (n.*1024T>A) | |
| 14 | g.87945598G>A | CA390746042 | GALC | c.1625C>T (p.Ala542Val) c.1556C>T (p.Ala519Val) c.1547C>T (p.Ala516Val) c.1457C>T (p.Ala486Val) c.992C>T (p.Ala331Val) c.206+2130C>T c.*1023C>T (n.*1023C>T) | |
| 14 | g.87945598G>C | CA390746043 | GALC | c.1625C>G (p.Ala542Gly) c.1556C>G (p.Ala519Gly) c.1547C>G (p.Ala516Gly) c.1457C>G (p.Ala486Gly) c.992C>G (p.Ala331Gly) c.206+2130C>G c.*1023C>G (n.*1023C>G) | |
| 14 | g.87945598G= | CA2153356546 | GALC | c.1625C= (p.Ala542=) c.1556C= (p.Ala519=) c.1547C= (p.Ala516=) c.1457C= (p.Ala486=) c.992C= (p.Ala331=) c.206+2130C= c.*1023C= (n.*1023C=) | |
| 14 | g.87945598G>T | CA390746044 | GALC | c.1625C>A (p.Ala542Asp) c.1556C>A (p.Ala519Asp) c.1547C>A (p.Ala516Asp) c.1457C>A (p.Ala486Asp) c.992C>A (p.Ala331Asp) c.206+2130C>A c.*1023C>A (n.*1023C>A) | gnomAD v4 |
| 14 | g.87945598_87945599insGC | CA7296969 | GALC | c.1624_1625insGC (p.Ala542GlyfsTer12) c.1555_1556insGC (p.Ala519GlyfsTer12) c.1546_1547insGC (p.Ala516GlyfsTer12) c.1456_1457insGC (p.Ala486GlyfsTer12) c.991_992insGC (p.Ala331GlyfsTer12) c.206+2129_206+2130insGC c.*1022_*1023insGC (n.*1022_*1023insGC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945599C>A | CA390746046 | GALC | c.1624G>T (p.Ala542Ser) c.1555G>T (p.Ala519Ser) c.1546G>T (p.Ala516Ser) c.1456G>T (p.Ala486Ser) c.991G>T (p.Ala331Ser) c.206+2129G>T c.*1022G>T (n.*1022G>T) | |
| 14 | g.87945599C= | CA2153356547 | GALC | c.1624G= (p.Ala542=) c.1555G= (p.Ala519=) c.1546G= (p.Ala516=) c.1456G= (p.Ala486=) c.991G= (p.Ala331=) c.206+2129G= c.*1022G= (n.*1022G=) | |
| 14 | g.87945599C>G | CA7296970 | GALC | c.1624G>C (p.Ala542Pro) c.1555G>C (p.Ala519Pro) c.1546G>C (p.Ala516Pro) c.1456G>C (p.Ala486Pro) c.991G>C (p.Ala331Pro) c.206+2129G>C c.*1022G>C (n.*1022G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945599C>T | CA390746045 | GALC | c.1624G>A (p.Ala542Thr) c.1555G>A (p.Ala519Thr) c.1546G>A (p.Ala516Thr) c.1456G>A (p.Ala486Thr) c.991G>A (p.Ala331Thr) c.206+2129G>A c.*1022G>A (n.*1022G>A) | |
| 14 | g.87945600_87945601del | CA2625979033 | GALC | c.1623_1624del (p.Trp541CysfsTer24) c.1554_1555del (p.Trp518CysfsTer24) c.1545_1546del (p.Trp515CysfsTer24) c.1455_1456del (p.Trp485CysfsTer24) c.990_991del (p.Trp330CysfsTer24) c.206+2128_206+2129del c.*1021_*1022del (n.*1021_*1022del) | gnomAD v4 |
| 14 | g.87945600C>A | CA390746047 | GALC | c.1623G>T (p.Trp541Cys) c.1554G>T (p.Trp518Cys) c.1545G>T (p.Trp515Cys) c.1455G>T (p.Trp485Cys) c.990G>T (p.Trp330Cys) c.206+2128G>T c.*1021G>T (n.*1021G>T) | |
| 14 | g.87945600C>G | CA390746048 | GALC | c.1623G>C (p.Trp541Cys) c.1554G>C (p.Trp518Cys) c.1545G>C (p.Trp515Cys) c.1455G>C (p.Trp485Cys) c.990G>C (p.Trp330Cys) c.206+2128G>C c.*1021G>C (n.*1021G>C) | |
| 14 | g.87945600C>T | CA390746049 | GALC | c.1623G>A (p.Trp541Ter) c.1554G>A (p.Trp518Ter) c.1545G>A (p.Trp515Ter) c.1455G>A (p.Trp485Ter) c.990G>A (p.Trp330Ter) c.206+2128G>A c.*1021G>A (n.*1021G>A) | ClinVar |
| 14 | g.87945601C>A | CA390746050 | GALC | c.1622G>T (p.Trp541Leu) c.1553G>T (p.Trp518Leu) c.1544G>T (p.Trp515Leu) c.1454G>T (p.Trp485Leu) c.989G>T (p.Trp330Leu) c.206+2127G>T c.*1020G>T (n.*1020G>T) | ClinVar dbSNP |
| 14 | g.87945601C>G | CA390746052 | GALC | c.1622G>C (p.Trp541Ser) c.1553G>C (p.Trp518Ser) c.1544G>C (p.Trp515Ser) c.1454G>C (p.Trp485Ser) c.989G>C (p.Trp330Ser) c.206+2127G>C c.*1020G>C (n.*1020G>C) | |
| 14 | g.87945601C>T | CA390746051 | GALC | c.1622G>A (p.Trp541Ter) c.1553G>A (p.Trp518Ter) c.1544G>A (p.Trp515Ter) c.1454G>A (p.Trp485Ter) c.989G>A (p.Trp330Ter) c.206+2127G>A c.*1020G>A (n.*1020G>A) | |
| 14 | g.87945601_87945603delinsCAT | CA2153356551 | GALC | c.1620_1622delinsATG (p.Thr540=) c.1551_1553delinsATG (p.Thr517=) c.1542_1544delinsATG (p.Thr514=) c.1452_1454delinsATG (p.Thr484=) c.987_989delinsATG (p.Thr329=) c.206+2125_206+2127delinsATG c.*1018_*1020delinsATG (n.*1018_*1020delinsATG) | |
| 14 | g.87945602A= | CA2153356552 | GALC | c.1621T= (p.Trp541=) c.1552T= (p.Trp518=) c.1543T= (p.Trp515=) c.1453T= (p.Trp485=) c.988T= (p.Trp330=) c.206+2126T= c.*1019T= (n.*1019T=) | |
| 14 | g.87945602A>C | CA390746053 | GALC | c.1621T>G (p.Trp541Gly) c.1552T>G (p.Trp518Gly) c.1543T>G (p.Trp515Gly) c.1453T>G (p.Trp485Gly) c.988T>G (p.Trp330Gly) c.206+2126T>G c.*1019T>G (n.*1019T>G) | dbSNP |
| 14 | g.87945602A>G | CA390746054 | GALC | c.1621T>C (p.Trp541Arg) c.1552T>C (p.Trp518Arg) c.1543T>C (p.Trp515Arg) c.1453T>C (p.Trp485Arg) c.988T>C (p.Trp330Arg) c.206+2126T>C c.*1019T>C (n.*1019T>C) | |
| 14 | g.87945602A>T | CA390746055 | GALC | c.1621T>A (p.Trp541Arg) c.1552T>A (p.Trp518Arg) c.1543T>A (p.Trp515Arg) c.1453T>A (p.Trp485Arg) c.988T>A (p.Trp330Arg) c.206+2126T>A c.*1019T>A (n.*1019T>A) | |
| 14 | g.87945602_87945603del | CA7296971 | GALC | c.1620_1621del (p.Trp541GlyfsTer24) c.1551_1552del (p.Trp518GlyfsTer24) c.1542_1543del (p.Trp515GlyfsTer24) c.1452_1453del (p.Trp485GlyfsTer24) c.987_988del (p.Trp330GlyfsTer24) c.206+2125_206+2126del c.*1018_*1019del (n.*1018_*1019del) | dbSNP ExAC gnomAD v2 |
| 14 | g.87945603T>A | CA487355506 | GALC | c.1620A>T (p.Thr540=) c.1551A>T (p.Thr517=) c.1542A>T (p.Thr514=) c.1452A>T (p.Thr484=) c.987A>T (p.Thr329=) c.206+2125A>T c.*1018A>T (n.*1018A>T) | |
| 14 | g.87945603T>C | CA180080 | GALC | c.1620A>G (p.Thr540=) c.1551A>G (p.Thr517=) c.1542A>G (p.Thr514=) c.1452A>G (p.Thr484=) c.987A>G (p.Thr329=) c.206+2125A>G c.*1018A>G (n.*1018A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945603T>G | CA487355507 | GALC | c.1620A>C (p.Thr540=) c.1551A>C (p.Thr517=) c.1542A>C (p.Thr514=) c.1452A>C (p.Thr484=) c.987A>C (p.Thr329=) c.206+2125A>C c.*1018A>C (n.*1018A>C) | gnomAD v4 |
| 14 | g.87945603T= | CA658656459 | GALC | c.1620A= (p.Thr540=) c.1551A= (p.Thr517=) c.1542A= (p.Thr514=) c.1452A= (p.Thr484=) c.987A= (p.Thr329=) c.206+2125A= c.*1018A= (n.*1018A=) | |
| 14 | g.87945604G>A | CA7296972 | GALC | c.1619C>T (p.Thr540Ile) c.1550C>T (p.Thr517Ile) c.1541C>T (p.Thr514Ile) c.1451C>T (p.Thr484Ile) c.986C>T (p.Thr329Ile) c.206+2124C>T c.*1017C>T (n.*1017C>T) c.1619C>T (p.Thr540Met) c.1550C>T (p.Thr517Met) c.1541C>T (p.Thr514Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945604G>C | CA390746056 | GALC | c.1619C>G (p.Thr540Arg) c.1550C>G (p.Thr517Arg) c.1541C>G (p.Thr514Arg) c.1451C>G (p.Thr484Arg) c.986C>G (p.Thr329Arg) c.206+2124C>G c.*1017C>G (n.*1017C>G) | |
| 14 | g.87945604G= | CA2153356795 | GALC | c.1619C= (p.Thr540=) c.1550C= (p.Thr517=) c.1541C= (p.Thr514=) c.1451C= (p.Thr484=) c.986C= (p.Thr329=) c.206+2124C= c.*1017C= (n.*1017C=) | |
| 14 | g.87945604G>T | CA390746057 | GALC | c.1619C>A (p.Thr540Lys) c.1550C>A (p.Thr517Lys) c.1541C>A (p.Thr514Lys) c.1451C>A (p.Thr484Lys) c.986C>A (p.Thr329Lys) c.206+2124C>A c.*1017C>A (n.*1017C>A) | gnomAD v4 |
| 14 | g.87945605T>A | CA390746058 | GALC | c.1618A>T (p.Thr540Ser) c.1549A>T (p.Thr517Ser) c.1540A>T (p.Thr514Ser) c.1450A>T (p.Thr484Ser) c.985A>T (p.Thr329Ser) c.206+2123A>T c.*1016A>T (n.*1016A>T) | |
| 14 | g.87945605T>C | CA390746059 | GALC | c.1618A>G (p.Thr540Ala) c.1549A>G (p.Thr517Ala) c.1540A>G (p.Thr514Ala) c.1450A>G (p.Thr484Ala) c.985A>G (p.Thr329Ala) c.206+2123A>G c.*1016A>G (n.*1016A>G) |