Canonical Allele Identifier: CA338233273
Gene: ATP13A2 HGNC NCBI

Linked Data

gnomAD v4: 1-16986808-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986808T>A , CM000663.2:g.16986808T>A GRCh38
NC_000001.10:g.17313303T>A , CM000663.1:g.17313303T>A GRCh37
NC_000001.9:g.17185890T>A NCBI36
NG_009054.1:g.30121A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.3232A>T MANE Select ENSP00000327214.8:p.Asn1078Tyr
ENST00000326735.12:c.3232A>T ENSP00000327214.8:p.Asn1078Tyr
ENST00000341676.9:c.3100A>T ENSP00000341115.5:p.Asn1034Tyr
ENST00000452699.5:c.3217A>T ENSP00000413307.1:p.Asn1073Tyr
ENST00000466561.1:n.1106A>T
ENST00000502418.1:c.820A>T ENSP00000423065.1:p.Asn274Tyr
NM_001141973.2:c.3217A>T NP_001135445.1:p.Asn1073Tyr
NM_001141974.2:c.3100A>T NP_001135446.1:p.Asn1034Tyr
NM_022089.3:c.3232A>T NP_071372.1:p.Asn1078Tyr
XM_005245809.1:c.3232A>T XP_005245866.1:p.Asn1078Tyr
XM_005245810.1:c.3229A>T XP_005245867.1:p.Asn1077Tyr
XM_005245811.1:c.3217A>T XP_005245868.1:p.Asn1073Tyr
XM_005245812.1:c.3205A>T XP_005245869.1:p.Asn1069Tyr
XM_005245813.1:c.3172A>T XP_005245870.1:p.Asn1058Tyr
XM_005245815.1:c.3115A>T XP_005245872.1:p.Asn1039Tyr
XM_006710512.1:c.3214A>T XP_006710575.1:p.Asn1072Tyr
XM_006710513.1:c.3190A>T XP_006710576.1:p.Asn1064Tyr
XM_011541128.1:c.3217A>T XP_011539430.1:p.Asn1073Tyr
XM_011541129.1:c.3025A>T XP_011539431.1:p.Asn1009Tyr
XM_017000844.1:c.3217A>T XP_016856333.1:p.Asn1073Tyr
XM_017000845.1:c.3214A>T XP_016856334.1:p.Asn1072Tyr
XM_017000846.1:c.3190A>T XP_016856335.1:p.Asn1064Tyr
XM_017000847.1:c.3187A>T XP_016856336.1:p.Asn1063Tyr
XM_017000848.1:c.3115A>T XP_016856337.1:p.Asn1039Tyr
XM_017000849.1:c.3100A>T XP_016856338.1:p.Asn1034Tyr
XM_017000850.1:c.3025A>T XP_016856339.1:p.Asn1009Tyr
NM_022089.4:c.3232A>T MANE Select NP_071372.1:p.Asn1078Tyr
NM_001141973.3:c.3217A>T NP_001135445.1:p.Asn1073Tyr
NM_001141974.3:c.3100A>T NP_001135446.1:p.Asn1034Tyr