Canonical Allele Identifier: CA18636692

Gene: ATP13A2

Linked Data

• dbSNP Id: rs574889436
• gnomAD v4: 1-16995916-C-G
• MyVariant Identifiers: chr1:g.17322411C>G (hg19) ; chr1:g.16995916C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16995916C>G , CM000663.2:g.16995916C>G	GRCh38
NC_000001.10:g.17322411C>G , CM000663.1:g.17322411C>G	GRCh37
NC_000001.9:g.17194998C>G	NCBI36
NG_009054.1:g.21013G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.1542+60G>C MANE Select	ENSP00000327214.8:n.1542+60G>C
ENST00000326735.12:c.1542+60G>C	ENSP00000327214.8:n.1542+60G>C
ENST00000341676.9:c.1527+60G>C	ENSP00000341115.5:n.1527+60G>C
ENST00000452699.5:c.1527+60G>C	ENSP00000413307.1:n.1527+60G>C
ENST00000463860.5:n.1210G>C
ENST00000502860.1:n.630G>C
ENST00000503552.1:c.219+60G>C	ENSP00000421126.1:n.219+60G>C
ENST00000617114.4:c.630G>C	ENSP00000478781.1:p.Arg210Ser
NM_001141973.2:c.1527+60G>C	NP_001135445.1:n.1527+60G>C
NM_001141974.2:c.1527+60G>C	NP_001135446.1:n.1527+60G>C
NM_022089.3:c.1542+60G>C	NP_071372.1:n.1542+60G>C
XM_005245809.1:c.1542+60G>C	XP_005245866.1:n.1542+60G>C
XM_005245810.1:c.1539+60G>C	XP_005245867.1:n.1539+60G>C
XM_005245811.1:c.1527+60G>C	XP_005245868.1:n.1527+60G>C
XM_005245812.1:c.1515+60G>C	XP_005245869.1:n.1515+60G>C
XM_005245813.1:c.1542+60G>C	XP_005245870.1:n.1542+60G>C
XM_005245815.1:c.1542+60G>C	XP_005245872.1:n.1542+60G>C
XM_006710512.1:c.1524+60G>C	XP_006710575.1:n.1524+60G>C
XM_006710513.1:c.1500+60G>C	XP_006710576.1:n.1500+60G>C
XM_011541128.1:c.1527+75G>C	XP_011539430.1:n.1527+75G>C
XM_011541129.1:c.1542+60G>C	XP_011539431.1:n.1542+60G>C
XM_017000844.1:c.1527+75G>C	XP_016856333.1:n.1527+75G>C
XM_017000845.1:c.1524+60G>C	XP_016856334.1:n.1524+60G>C
XM_017000846.1:c.1500+60G>C	XP_016856335.1:n.1500+60G>C
XM_017000847.1:c.1497+75G>C	XP_016856336.1:n.1497+75G>C
XM_017000848.1:c.1542+60G>C	XP_016856337.1:n.1542+60G>C
XM_017000849.1:c.1527+60G>C	XP_016856338.1:n.1527+60G>C
XM_017000850.1:c.1542+60G>C	XP_016856339.1:n.1542+60G>C
NM_022089.4:c.1542+60G>C MANE Select	NP_071372.1:n.1542+60G>C
NM_001141973.3:c.1527+60G>C	NP_001135445.1:n.1527+60G>C
NM_001141974.3:c.1527+60G>C	NP_001135446.1:n.1527+60G>C