Canonical Allele Identifier: CA18624729

Gene: ATP13A2

Linked Data

• dbSNP Id: rs913197059
• gnomAD v2: 1-17312799-C-T
• gnomAD v3: 1-16986304-C-T
• gnomAD v4: 1-16986304-C-T
• MyVariant Identifiers: chr1:g.17312799C>T (hg19) ; chr1:g.16986304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986304C>T , CM000663.2:g.16986304C>T	GRCh38
NC_000001.10:g.17312799C>T , CM000663.1:g.17312799C>T	GRCh37
NC_000001.9:g.17185386C>T	NCBI36
NG_009054.1:g.30625G>A
NG_029688.1:g.283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3460G>A MANE Select	ENSP00000327214.8:p.Ala1154Thr
ENST00000326735.12:c.3460G>A	ENSP00000327214.8:p.Ala1154Thr
ENST00000341676.9:c.3158G>A	ENSP00000341115.5:p.Gly1053Asp
ENST00000452699.5:c.3445G>A	ENSP00000413307.1:p.Ala1149Thr
ENST00000466561.1:n.1506G>A
ENST00000502418.1:c.878G>A	ENSP00000423065.1:p.Gly293Asp
NM_001141973.2:c.3445G>A	NP_001135445.1:p.Ala1149Thr
NM_001141974.2:c.3158G>A	NP_001135446.1:p.Gly1053Asp
NM_022089.3:c.3460G>A	NP_071372.1:p.Ala1154Thr
XM_005245809.1:c.3290G>A	XP_005245866.1:p.Gly1097Asp
XM_005245810.1:c.3287G>A	XP_005245867.1:p.Gly1096Asp
XM_005245811.1:c.3275G>A	XP_005245868.1:p.Gly1092Asp
XM_005245812.1:c.3263G>A	XP_005245869.1:p.Gly1088Asp
XM_005245813.1:c.3230G>A	XP_005245870.1:p.Gly1077Asp
XM_005245815.1:c.3173G>A	XP_005245872.1:p.Gly1058Asp
XM_006710512.1:c.3272G>A	XP_006710575.1:p.Gly1091Asp
XM_006710513.1:c.3248G>A	XP_006710576.1:p.Gly1083Asp
XM_011541128.1:c.3275G>A	XP_011539430.1:p.Gly1092Asp
XM_011541129.1:c.3083G>A	XP_011539431.1:p.Gly1028Asp
XM_017000844.1:c.3445G>A	XP_016856333.1:p.Ala1149Thr
XM_017000845.1:c.3442G>A	XP_016856334.1:p.Ala1148Thr
XM_017000846.1:c.3418G>A	XP_016856335.1:p.Ala1140Thr
XM_017000847.1:c.3415G>A	XP_016856336.1:p.Ala1139Thr
XM_017000848.1:c.3343G>A	XP_016856337.1:p.Ala1115Thr
XM_017000849.1:c.3328G>A	XP_016856338.1:p.Ala1110Thr
XM_017000850.1:c.3253G>A	XP_016856339.1:p.Ala1085Thr
NM_022089.4:c.3460G>A MANE Select	NP_071372.1:p.Ala1154Thr
NM_001141973.3:c.3445G>A	NP_001135445.1:p.Ala1149Thr
NM_001141974.3:c.3158G>A	NP_001135446.1:p.Gly1053Asp