Canonical Allele Identifier: CA18637504

Gene: ATP13A2

Linked Data

• dbSNP Id: rs913018269
• gnomAD v2: 1-17322896-C-T
• gnomAD v4: 1-16996401-C-T
• MyVariant Identifiers: chr1:g.17322896C>T (hg19) ; chr1:g.16996401C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996401C>T , CM000663.2:g.16996401C>T	GRCh38
NC_000001.10:g.17322896C>T , CM000663.1:g.17322896C>T	GRCh37
NC_000001.9:g.17195483C>T	NCBI36
NG_009054.1:g.20528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1291G>A MANE Select	ENSP00000327214.8:p.Ala431Thr
ENST00000326735.12:c.1291G>A	ENSP00000327214.8:p.Ala431Thr
ENST00000341676.9:c.1276G>A	ENSP00000341115.5:p.Ala426Thr
ENST00000452699.5:c.1276G>A	ENSP00000413307.1:p.Ala426Thr
ENST00000463860.5:n.899G>A
ENST00000502860.1:n.335-101G>A
ENST00000506174.5:c.433G>A	ENSP00000424393.1:p.Ala145Thr
ENST00000509392.1:n.294G>A
ENST00000617114.4:c.335-101G>A	ENSP00000478781.1:n.335-101G>A
NM_001141973.2:c.1276G>A	NP_001135445.1:p.Ala426Thr
NM_001141974.2:c.1276G>A	NP_001135446.1:p.Ala426Thr
NM_022089.3:c.1291G>A	NP_071372.1:p.Ala431Thr
XM_005245809.1:c.1291G>A	XP_005245866.1:p.Ala431Thr
XM_005245810.1:c.1288G>A	XP_005245867.1:p.Ala430Thr
XM_005245811.1:c.1276G>A	XP_005245868.1:p.Ala426Thr
XM_005245812.1:c.1264G>A	XP_005245869.1:p.Ala422Thr
XM_005245813.1:c.1291G>A	XP_005245870.1:p.Ala431Thr
XM_005245815.1:c.1291G>A	XP_005245872.1:p.Ala431Thr
XM_006710512.1:c.1273G>A	XP_006710575.1:p.Ala425Thr
XM_006710513.1:c.1249G>A	XP_006710576.1:p.Ala417Thr
XM_011541128.1:c.1291G>A	XP_011539430.1:p.Ala431Thr
XM_011541129.1:c.1291G>A	XP_011539431.1:p.Ala431Thr
XM_017000844.1:c.1291G>A	XP_016856333.1:p.Ala431Thr
XM_017000845.1:c.1273G>A	XP_016856334.1:p.Ala425Thr
XM_017000846.1:c.1249G>A	XP_016856335.1:p.Ala417Thr
XM_017000847.1:c.1261G>A	XP_016856336.1:p.Ala421Thr
XM_017000848.1:c.1291G>A	XP_016856337.1:p.Ala431Thr
XM_017000849.1:c.1276G>A	XP_016856338.1:p.Ala426Thr
XM_017000850.1:c.1291G>A	XP_016856339.1:p.Ala431Thr
NM_022089.4:c.1291G>A MANE Select	NP_071372.1:p.Ala431Thr
NM_001141973.3:c.1276G>A	NP_001135445.1:p.Ala426Thr
NM_001141974.3:c.1276G>A	NP_001135446.1:p.Ala426Thr