Canonical Allele Identifier: CA338254618
Gene: ATP13A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16996440T>A , CM000663.2:g.16996440T>A GRCh38
NC_000001.10:g.17322935T>A , CM000663.1:g.17322935T>A GRCh37
NC_000001.9:g.17195522T>A NCBI36
NG_009054.1:g.20489A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.1252A>T MANE Select ENSP00000327214.8:p.Asn418Tyr
ENST00000326735.12:c.1252A>T ENSP00000327214.8:p.Asn418Tyr
ENST00000341676.9:c.1237A>T ENSP00000341115.5:p.Asn413Tyr
ENST00000452699.5:c.1237A>T ENSP00000413307.1:p.Asn413Tyr
ENST00000463860.5:n.860A>T
ENST00000502860.1:n.335-140A>T
ENST00000506174.5:c.394A>T ENSP00000424393.1:p.Asn132Tyr
ENST00000509392.1:n.255A>T
ENST00000617114.4:c.335-140A>T ENSP00000478781.1:n.335-140A>T
NM_001141973.2:c.1237A>T NP_001135445.1:p.Asn413Tyr
NM_001141974.2:c.1237A>T NP_001135446.1:p.Asn413Tyr
NM_022089.3:c.1252A>T NP_071372.1:p.Asn418Tyr
XM_005245809.1:c.1252A>T XP_005245866.1:p.Asn418Tyr
XM_005245810.1:c.1249A>T XP_005245867.1:p.Asn417Tyr
XM_005245811.1:c.1237A>T XP_005245868.1:p.Asn413Tyr
XM_005245812.1:c.1225A>T XP_005245869.1:p.Asn409Tyr
XM_005245813.1:c.1252A>T XP_005245870.1:p.Asn418Tyr
XM_005245815.1:c.1252A>T XP_005245872.1:p.Asn418Tyr
XM_006710512.1:c.1234A>T XP_006710575.1:p.Asn412Tyr
XM_006710513.1:c.1210A>T XP_006710576.1:p.Asn404Tyr
XM_011541128.1:c.1252A>T XP_011539430.1:p.Asn418Tyr
XM_011541129.1:c.1252A>T XP_011539431.1:p.Asn418Tyr
XM_017000844.1:c.1252A>T XP_016856333.1:p.Asn418Tyr
XM_017000845.1:c.1234A>T XP_016856334.1:p.Asn412Tyr
XM_017000846.1:c.1210A>T XP_016856335.1:p.Asn404Tyr
XM_017000847.1:c.1222A>T XP_016856336.1:p.Asn408Tyr
XM_017000848.1:c.1252A>T XP_016856337.1:p.Asn418Tyr
XM_017000849.1:c.1237A>T XP_016856338.1:p.Asn413Tyr
XM_017000850.1:c.1252A>T XP_016856339.1:p.Asn418Tyr
NM_022089.4:c.1252A>T MANE Select NP_071372.1:p.Asn418Tyr
NM_001141973.3:c.1237A>T NP_001135445.1:p.Asn413Tyr
NM_001141974.3:c.1237A>T NP_001135446.1:p.Asn413Tyr