Canonical Allele Identifier: CA338233270

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313303T>G (hg19) ; chr1:g.16986808T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986808T>G , CM000663.2:g.16986808T>G	GRCh38
NC_000001.10:g.17313303T>G , CM000663.1:g.17313303T>G	GRCh37
NC_000001.9:g.17185890T>G	NCBI36
NG_009054.1:g.30121A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3232A>C MANE Select	ENSP00000327214.8:p.Asn1078His
ENST00000326735.12:c.3232A>C	ENSP00000327214.8:p.Asn1078His
ENST00000341676.9:c.3100A>C	ENSP00000341115.5:p.Asn1034His
ENST00000452699.5:c.3217A>C	ENSP00000413307.1:p.Asn1073His
ENST00000466561.1:n.1106A>C
ENST00000502418.1:c.820A>C	ENSP00000423065.1:p.Asn274His
NM_001141973.2:c.3217A>C	NP_001135445.1:p.Asn1073His
NM_001141974.2:c.3100A>C	NP_001135446.1:p.Asn1034His
NM_022089.3:c.3232A>C	NP_071372.1:p.Asn1078His
XM_005245809.1:c.3232A>C	XP_005245866.1:p.Asn1078His
XM_005245810.1:c.3229A>C	XP_005245867.1:p.Asn1077His
XM_005245811.1:c.3217A>C	XP_005245868.1:p.Asn1073His
XM_005245812.1:c.3205A>C	XP_005245869.1:p.Asn1069His
XM_005245813.1:c.3172A>C	XP_005245870.1:p.Asn1058His
XM_005245815.1:c.3115A>C	XP_005245872.1:p.Asn1039His
XM_006710512.1:c.3214A>C	XP_006710575.1:p.Asn1072His
XM_006710513.1:c.3190A>C	XP_006710576.1:p.Asn1064His
XM_011541128.1:c.3217A>C	XP_011539430.1:p.Asn1073His
XM_011541129.1:c.3025A>C	XP_011539431.1:p.Asn1009His
XM_017000844.1:c.3217A>C	XP_016856333.1:p.Asn1073His
XM_017000845.1:c.3214A>C	XP_016856334.1:p.Asn1072His
XM_017000846.1:c.3190A>C	XP_016856335.1:p.Asn1064His
XM_017000847.1:c.3187A>C	XP_016856336.1:p.Asn1063His
XM_017000848.1:c.3115A>C	XP_016856337.1:p.Asn1039His
XM_017000849.1:c.3100A>C	XP_016856338.1:p.Asn1034His
XM_017000850.1:c.3025A>C	XP_016856339.1:p.Asn1009His
NM_022089.4:c.3232A>C MANE Select	NP_071372.1:p.Asn1078His
NM_001141973.3:c.3217A>C	NP_001135445.1:p.Asn1073His
NM_001141974.3:c.3100A>C	NP_001135446.1:p.Asn1034His