UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87941529T>A | CA390745866 | GALC | c.1700A>T (p.Tyr567Phe) c.1631A>T (p.Tyr544Phe) c.1622A>T (p.Tyr541Phe) c.1532A>T (p.Tyr511Phe) c.1067A>T (p.Tyr356Phe) c.236A>T c.*1098A>T (n.*1098A>T) | gnomAD v4 |
| 14 | g.87941529T>C | CA390745867 | GALC | c.1700A>G (p.Tyr567Cys) c.1631A>G (p.Tyr544Cys) c.1622A>G (p.Tyr541Cys) c.1532A>G (p.Tyr511Cys) c.1067A>G (p.Tyr356Cys) c.236A>G c.*1098A>G (n.*1098A>G) | |
| 14 | g.87941529T>G | CA274200 | GALC | c.1700A>C (p.Tyr567Ser) c.1631A>C (p.Tyr544Ser) c.1622A>C (p.Tyr541Ser) c.1532A>C (p.Tyr511Ser) c.1067A>C (p.Tyr356Ser) c.236A>C c.*1098A>C (n.*1098A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87941529T= | CA2153353393 | GALC | c.1700A= (p.Tyr567=) c.1631A= (p.Tyr544=) c.1622A= (p.Tyr541=) c.1532A= (p.Tyr511=) c.1067A= (p.Tyr356=) c.236A= c.*1098A= (n.*1098A=) | |
| 14 | g.87941530A>C | CA390745868 | GALC | c.1699T>G (p.Tyr567Asp) c.1630T>G (p.Tyr544Asp) c.1621T>G (p.Tyr541Asp) c.1531T>G (p.Tyr511Asp) c.1066T>G (p.Tyr356Asp) c.235T>G c.*1097T>G (n.*1097T>G) | |
| 14 | g.87941530A>G | CA390745869 | GALC | c.1699T>C (p.Tyr567His) c.1630T>C (p.Tyr544His) c.1621T>C (p.Tyr541His) c.1531T>C (p.Tyr511His) c.1066T>C (p.Tyr356His) c.235T>C c.*1097T>C (n.*1097T>C) | gnomAD v4 |
| 14 | g.87941530A>T | CA390745870 | GALC | c.1699T>A (p.Tyr567Asn) c.1630T>A (p.Tyr544Asn) c.1621T>A (p.Tyr541Asn) c.1531T>A (p.Tyr511Asn) c.1066T>A (p.Tyr356Asn) c.235T>A c.*1097T>A (n.*1097T>A) | |
| 14 | g.87941531del | CA2625978789 | GALC | c.1698del (p.Tyr567ThrfsTer2) c.1629del (p.Tyr544ThrfsTer2) c.1620del (p.Tyr541ThrfsTer2) c.1530del (p.Tyr511ThrfsTer2) c.1065del (p.Tyr356ThrfsTer2) c.234del c.*1096del (n.*1096del) | gnomAD v4 |
| 14 | g.87941531T>A | CA145807 | GALC | c.1698A>T (p.Val566=) c.1629A>T (p.Val543=) c.1620A>T (p.Val540=) c.1530A>T (p.Val510=) c.1065A>T (p.Val355=) c.234A>T c.*1096A>T (n.*1096A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87941531T>C | CA7296939 | GALC | c.1698A>G (p.Val566=) c.1629A>G (p.Val543=) c.1620A>G (p.Val540=) c.1530A>G (p.Val510=) c.1065A>G (p.Val355=) c.234A>G c.*1096A>G (n.*1096A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87941531T>G | CA487355439 | GALC | c.1698A>C (p.Val566=) c.1629A>C (p.Val543=) c.1620A>C (p.Val540=) c.1530A>C (p.Val510=) c.1065A>C (p.Val355=) c.234A>C c.*1096A>C (n.*1096A>C) | dbSNP gnomAD v4 |
| 14 | g.87941531T= | CA2153353394 | GALC | c.1698A= (p.Val566=) c.1629A= (p.Val543=) c.1620A= (p.Val540=) c.1530A= (p.Val510=) c.1065A= (p.Val355=) c.234A= c.*1096A= (n.*1096A=) | |
| 14 | g.87941531_87941544delinsAACATCACACTTTG | CA264680086 | GALC | c.1685_1698delinsCAAAGTGTGATGTT (p.Ile562Thr) c.1616_1629delinsCAAAGTGTGATGTT (p.Ile539Thr) c.1607_1620delinsCAAAGTGTGATGTT (p.Ile536Thr) c.1517_1530delinsCAAAGTGTGATGTT (p.Ile506Thr) c.1052_1065delinsCAAAGTGTGATGTT (p.Ile351Thr) c.221_234delinsCAAAGTGTGATGTT c.*1083_*1096delinsCAAAGTGTGATGTT (n.*1083_*1096delinsCAAAGTGTGATGTT) | dbSNP |
| 14 | g.87941531_87941544delinsTACATCACACTTTA | CA2153353395 | GALC | c.1685_1698delinsTAAAGTGTGATGTA (p.Ile562=) c.1616_1629delinsTAAAGTGTGATGTA (p.Ile539=) c.1607_1620delinsTAAAGTGTGATGTA (p.Ile536=) c.1517_1530delinsTAAAGTGTGATGTA (p.Ile506=) c.1052_1065delinsTAAAGTGTGATGTA (p.Ile351=) c.221_234delinsTAAAGTGTGATGTA c.*1083_*1096delinsTAAAGTGTGATGTA (n.*1083_*1096delinsTAAAGTGTGATGTA) | |
| 14 | g.87941532A>C | CA390745873 | GALC | c.1697T>G (p.Val566Gly) c.1628T>G (p.Val543Gly) c.1619T>G (p.Val540Gly) c.1529T>G (p.Val510Gly) c.1064T>G (p.Val355Gly) c.233T>G c.*1095T>G (n.*1095T>G) | gnomAD v4 |
| 14 | g.87941532A>G | CA390745872 | GALC | c.1697T>C (p.Val566Ala) c.1628T>C (p.Val543Ala) c.1619T>C (p.Val540Ala) c.1529T>C (p.Val510Ala) c.1064T>C (p.Val355Ala) c.233T>C c.*1095T>C (n.*1095T>C) | |
| 14 | g.87941532A>T | CA390745871 | GALC | c.1697T>A (p.Val566Glu) c.1628T>A (p.Val543Glu) c.1619T>A (p.Val540Glu) c.1529T>A (p.Val510Glu) c.1064T>A (p.Val355Glu) c.233T>A c.*1095T>A (n.*1095T>A) | |
| 14 | g.87941533C>A | CA7296940 | GALC | c.1696G>T (p.Val566Leu) c.1627G>T (p.Val543Leu) c.1618G>T (p.Val540Leu) c.1528G>T (p.Val510Leu) c.1063G>T (p.Val355Leu) c.232G>T c.*1094G>T (n.*1094G>T) | dbSNP ExAC |
| 14 | g.87941533C= | CA2153353396 | GALC | c.1696G= (p.Val566=) c.1627G= (p.Val543=) c.1618G= (p.Val540=) c.1528G= (p.Val510=) c.1063G= (p.Val355=) c.232G= c.*1094G= (n.*1094G=) | |
| 14 | g.87941533C>G | CA390745874 | GALC | c.1696G>C (p.Val566Leu) c.1627G>C (p.Val543Leu) c.1618G>C (p.Val540Leu) c.1528G>C (p.Val510Leu) c.1063G>C (p.Val355Leu) c.232G>C c.*1094G>C (n.*1094G>C) | |
| 14 | g.87941533C>T | CA390745875 | GALC | c.1696G>A (p.Val566Ile) c.1627G>A (p.Val543Ile) c.1618G>A (p.Val540Ile) c.1528G>A (p.Val510Ile) c.1063G>A (p.Val355Ile) c.232G>A c.*1094G>A (n.*1094G>A) | gnomAD v4 |
| 14 | g.87941534del | CA487355441 | GALC | c.1695del (p.Asp565GlufsTer4) c.1626del (p.Asp542GlufsTer4) c.1617del (p.Asp539GlufsTer4) c.1527del (p.Asp509GlufsTer4) c.1062del (p.Asp354GlufsTer4) c.231del c.*1093del (n.*1093del) | |
| 14 | g.87941534A= | CA2153353397 | GALC | c.1695T= (p.Asp565=) c.1626T= (p.Asp542=) c.1617T= (p.Asp539=) c.1527T= (p.Asp509=) c.1062T= (p.Asp354=) c.231T= c.*1093T= (n.*1093T=) | |
| 14 | g.87941534A>C | CA390745876 | GALC | c.1695T>G (p.Asp565Glu) c.1626T>G (p.Asp542Glu) c.1617T>G (p.Asp539Glu) c.1527T>G (p.Asp509Glu) c.1062T>G (p.Asp354Glu) c.231T>G c.*1093T>G (n.*1093T>G) | dbSNP gnomAD v2 |
| 14 | g.87941534A>G | CA487355440 | GALC | c.1695T>C (p.Asp565=) c.1626T>C (p.Asp542=) c.1617T>C (p.Asp539=) c.1527T>C (p.Asp509=) c.1062T>C (p.Asp354=) c.231T>C c.*1093T>C (n.*1093T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87941534A>T | CA390745877 | GALC | c.1695T>A (p.Asp565Glu) c.1626T>A (p.Asp542Glu) c.1617T>A (p.Asp539Glu) c.1527T>A (p.Asp509Glu) c.1062T>A (p.Asp354Glu) c.231T>A c.*1093T>A (n.*1093T>A) | |
| 14 | g.87941535T>A | CA390745878 | GALC | c.1694A>T (p.Asp565Val) c.1625A>T (p.Asp542Val) c.1616A>T (p.Asp539Val) c.1526A>T (p.Asp509Val) c.1061A>T (p.Asp354Val) c.230A>T c.*1092A>T (n.*1092A>T) | |
| 14 | g.87941535T>C | CA390745879 | GALC | c.1694A>G (p.Asp565Gly) c.1625A>G (p.Asp542Gly) c.1616A>G (p.Asp539Gly) c.1526A>G (p.Asp509Gly) c.1061A>G (p.Asp354Gly) c.230A>G c.*1092A>G (n.*1092A>G) | dbSNP gnomAD v4 |
| 14 | g.87941535T>G | CA390745880 | GALC | c.1694A>C (p.Asp565Ala) c.1625A>C (p.Asp542Ala) c.1616A>C (p.Asp539Ala) c.1526A>C (p.Asp509Ala) c.1061A>C (p.Asp354Ala) c.230A>C c.*1092A>C (n.*1092A>C) | |
| 14 | g.87941535T= | CA2153353398 | GALC | c.1694A= (p.Asp565=) c.1625A= (p.Asp542=) c.1616A= (p.Asp539=) c.1526A= (p.Asp509=) c.1061A= (p.Asp354=) c.230A= c.*1092A= (n.*1092A=) | |
| 14 | g.87941536C>A | CA390745881 | GALC | c.1693G>T (p.Asp565Tyr) c.1624G>T (p.Asp542Tyr) c.1615G>T (p.Asp539Tyr) c.1525G>T (p.Asp509Tyr) c.1060G>T (p.Asp354Tyr) c.229G>T c.*1091G>T (n.*1091G>T) | |
| 14 | g.87941536C= | CA2153353399 | GALC | c.1693G= (p.Asp565=) c.1624G= (p.Asp542=) c.1615G= (p.Asp539=) c.1525G= (p.Asp509=) c.1060G= (p.Asp354=) c.229G= c.*1091G= (n.*1091G=) | |
| 14 | g.87941536C>G | CA390745882 | GALC | c.1693G>C (p.Asp565His) c.1624G>C (p.Asp542His) c.1615G>C (p.Asp539His) c.1525G>C (p.Asp509His) c.1060G>C (p.Asp354His) c.229G>C c.*1091G>C (n.*1091G>C) | gnomAD v4 |
| 14 | g.87941536C>T | CA390745883 | GALC | c.1693G>A (p.Asp565Asn) c.1624G>A (p.Asp542Asn) c.1615G>A (p.Asp539Asn) c.1525G>A (p.Asp509Asn) c.1060G>A (p.Asp354Asn) c.229G>A c.*1091G>A (n.*1091G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87941539_87941540del | CA2625978790 | GALC | c.1692_1693del (p.Cys564Ter) c.1623_1624del (p.Cys541Ter) c.1614_1615del (p.Cys538Ter) c.1524_1525del (p.Cys508Ter) c.1059_1060del (p.Cys353Ter) c.228_229del c.*1090_*1091del (n.*1090_*1091del) | gnomAD v4 |
| 14 | g.87941537A>C | CA390745884 | GALC | c.1692T>G (p.Cys564Trp) c.1623T>G (p.Cys541Trp) c.1614T>G (p.Cys538Trp) c.1524T>G (p.Cys508Trp) c.1059T>G (p.Cys353Trp) c.228T>G c.*1090T>G (n.*1090T>G) | |
| 14 | g.87941537A>G | CA487355442 | GALC | c.1692T>C (p.Cys564=) c.1623T>C (p.Cys541=) c.1614T>C (p.Cys538=) c.1524T>C (p.Cys508=) c.1059T>C (p.Cys353=) c.228T>C c.*1090T>C (n.*1090T>C) | gnomAD v4 |
| 14 | g.87941537A>T | CA390745885 | GALC | c.1692T>A (p.Cys564Ter) c.1623T>A (p.Cys541Ter) c.1614T>A (p.Cys538Ter) c.1524T>A (p.Cys508Ter) c.1059T>A (p.Cys353Ter) c.228T>A c.*1090T>A (n.*1090T>A) | |
| 14 | g.87941538C>A | CA390745888 | GALC | c.1691G>T (p.Cys564Phe) c.1622G>T (p.Cys541Phe) c.1613G>T (p.Cys538Phe) c.1523G>T (p.Cys508Phe) c.1058G>T (p.Cys353Phe) c.227G>T c.*1089G>T (n.*1089G>T) | |
| 14 | g.87941538C>G | CA390745887 | GALC | c.1691G>C (p.Cys564Ser) c.1622G>C (p.Cys541Ser) c.1613G>C (p.Cys538Ser) c.1523G>C (p.Cys508Ser) c.1058G>C (p.Cys353Ser) c.227G>C c.*1089G>C (n.*1089G>C) | |
| 14 | g.87941538C>T | CA390745886 | GALC | c.1691G>A (p.Cys564Tyr) c.1622G>A (p.Cys541Tyr) c.1613G>A (p.Cys538Tyr) c.1523G>A (p.Cys508Tyr) c.1058G>A (p.Cys353Tyr) c.227G>A c.*1089G>A (n.*1089G>A) | gnomAD v4 |
| 14 | g.87941539A= | CA2153353400 | GALC | c.1690T= (p.Cys564=) c.1621T= (p.Cys541=) c.1612T= (p.Cys538=) c.1522T= (p.Cys508=) c.1057T= (p.Cys353=) c.226T= c.*1088T= (n.*1088T=) | |
| 14 | g.87941539A>C | CA390745889 | GALC | c.1690T>G (p.Cys564Gly) c.1621T>G (p.Cys541Gly) c.1612T>G (p.Cys538Gly) c.1522T>G (p.Cys508Gly) c.1057T>G (p.Cys353Gly) c.226T>G c.*1088T>G (n.*1088T>G) | ClinVar dbSNP |
| 14 | g.87941539A>G | CA390745891 | GALC | c.1690T>C (p.Cys564Arg) c.1621T>C (p.Cys541Arg) c.1612T>C (p.Cys538Arg) c.1522T>C (p.Cys508Arg) c.1057T>C (p.Cys353Arg) c.226T>C c.*1088T>C (n.*1088T>C) | |
| 14 | g.87941539A>T | CA390745890 | GALC | c.1690T>A (p.Cys564Ser) c.1621T>A (p.Cys541Ser) c.1612T>A (p.Cys538Ser) c.1522T>A (p.Cys508Ser) c.1057T>A (p.Cys353Ser) c.226T>A c.*1088T>A (n.*1088T>A) | |
| 14 | g.87941540C>A | CA390745892 | GALC | c.1689G>T (p.Lys563Asn) c.1620G>T (p.Lys540Asn) c.1611G>T (p.Lys537Asn) c.1521G>T (p.Lys507Asn) c.1056G>T (p.Lys352Asn) c.225G>T c.*1087G>T (n.*1087G>T) | |
| 14 | g.87941540C= | CA2153353401 | GALC | c.1689G= (p.Lys563=) c.1620G= (p.Lys540=) c.1611G= (p.Lys537=) c.1521G= (p.Lys507=) c.1056G= (p.Lys352=) c.225G= c.*1087G= (n.*1087G=) | |
| 14 | g.87941540C>G | CA390745893 | GALC | c.1689G>C (p.Lys563Asn) c.1620G>C (p.Lys540Asn) c.1611G>C (p.Lys537Asn) c.1521G>C (p.Lys507Asn) c.1056G>C (p.Lys352Asn) c.225G>C c.*1087G>C (n.*1087G>C) | |
| 14 | g.87941540C>T | CA487355443 | GALC | c.1689G>A (p.Lys563=) c.1620G>A (p.Lys540=) c.1611G>A (p.Lys537=) c.1521G>A (p.Lys507=) c.1056G>A (p.Lys352=) c.225G>A c.*1087G>A (n.*1087G>A) | dbSNP |
| 14 | g.87941541T>A | CA390745894 | GALC | c.1688A>T (p.Lys563Met) c.1619A>T (p.Lys540Met) c.1610A>T (p.Lys537Met) c.1520A>T (p.Lys507Met) c.1055A>T (p.Lys352Met) c.224A>T c.*1086A>T (n.*1086A>T) |