Canonical Allele Identifier: CA338251873

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16996013-T-G
• MyVariant Identifiers: chr1:g.17322508T>G (hg19) ; chr1:g.16996013T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996013T>G , CM000663.2:g.16996013T>G	GRCh38
NC_000001.10:g.17322508T>G , CM000663.1:g.17322508T>G	GRCh37
NC_000001.9:g.17195095T>G	NCBI36
NG_009054.1:g.20916A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1505A>C MANE Select	ENSP00000327214.8:p.Asn502Thr
ENST00000326735.12:c.1505A>C	ENSP00000327214.8:p.Asn502Thr
ENST00000341676.9:c.1490A>C	ENSP00000341115.5:p.Asn497Thr
ENST00000452699.5:c.1490A>C	ENSP00000413307.1:p.Asn497Thr
ENST00000463860.5:n.1113A>C
ENST00000502860.1:n.533A>C
ENST00000503552.1:c.182A>C	ENSP00000421126.1:p.Asn61Thr
ENST00000617114.4:c.533A>C	ENSP00000478781.1:p.Asn178Thr
NM_001141973.2:c.1490A>C	NP_001135445.1:p.Asn497Thr
NM_001141974.2:c.1490A>C	NP_001135446.1:p.Asn497Thr
NM_022089.3:c.1505A>C	NP_071372.1:p.Asn502Thr
XM_005245809.1:c.1505A>C	XP_005245866.1:p.Asn502Thr
XM_005245810.1:c.1502A>C	XP_005245867.1:p.Asn501Thr
XM_005245811.1:c.1490A>C	XP_005245868.1:p.Asn497Thr
XM_005245812.1:c.1478A>C	XP_005245869.1:p.Asn493Thr
XM_005245813.1:c.1505A>C	XP_005245870.1:p.Asn502Thr
XM_005245815.1:c.1505A>C	XP_005245872.1:p.Asn502Thr
XM_006710512.1:c.1487A>C	XP_006710575.1:p.Asn496Thr
XM_006710513.1:c.1463A>C	XP_006710576.1:p.Asn488Thr
XM_011541128.1:c.1505A>C	XP_011539430.1:p.Asn502Thr
XM_011541129.1:c.1505A>C	XP_011539431.1:p.Asn502Thr
XM_017000844.1:c.1505A>C	XP_016856333.1:p.Asn502Thr
XM_017000845.1:c.1487A>C	XP_016856334.1:p.Asn496Thr
XM_017000846.1:c.1463A>C	XP_016856335.1:p.Asn488Thr
XM_017000847.1:c.1475A>C	XP_016856336.1:p.Asn492Thr
XM_017000848.1:c.1505A>C	XP_016856337.1:p.Asn502Thr
XM_017000849.1:c.1490A>C	XP_016856338.1:p.Asn497Thr
XM_017000850.1:c.1505A>C	XP_016856339.1:p.Asn502Thr
NM_022089.4:c.1505A>C MANE Select	NP_071372.1:p.Asn502Thr
NM_001141973.3:c.1490A>C	NP_001135445.1:p.Asn497Thr
NM_001141974.3:c.1490A>C	NP_001135446.1:p.Asn497Thr