Canonical Allele Identifier: CA636460

Gene: ATP13A2

Linked Data

• dbSNP Id: rs764731198
• ExAC: 1:17312735 G / T
• gnomAD v4: 1-16986240-G-T
• MyVariant Identifiers: chr1:g.17312735G>T (hg19) ; chr1:g.16986240G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986240G>T , CM000663.2:g.16986240G>T	GRCh38
NC_000001.10:g.17312735G>T , CM000663.1:g.17312735G>T	GRCh37
NC_000001.9:g.17185322G>T	NCBI36
NG_009054.1:g.30689C>A
NG_029688.1:g.347C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3524C>A MANE Select	ENSP00000327214.8:p.Pro1175His
ENST00000326735.12:c.3524C>A	ENSP00000327214.8:p.Pro1175His
ENST00000341676.9:c.3222C>A	ENSP00000341115.5:p.Ala1074=
ENST00000452699.5:c.3509C>A	ENSP00000413307.1:p.Pro1170His
ENST00000466561.1:n.1570C>A
ENST00000502418.1:c.942C>A	ENSP00000423065.1:p.Ala314=
NM_001141973.2:c.3509C>A	NP_001135445.1:p.Pro1170His
NM_001141974.2:c.3222C>A	NP_001135446.1:p.Ala1074=
NM_022089.3:c.3524C>A	NP_071372.1:p.Pro1175His
XM_005245809.1:c.3354C>A	XP_005245866.1:p.Ala1118=
XM_005245810.1:c.3351C>A	XP_005245867.1:p.Ala1117=
XM_005245811.1:c.3339C>A	XP_005245868.1:p.Ala1113=
XM_005245812.1:c.3327C>A	XP_005245869.1:p.Ala1109=
XM_005245813.1:c.3294C>A	XP_005245870.1:p.Ala1098=
XM_005245815.1:c.3237C>A	XP_005245872.1:p.Ala1079=
XM_006710512.1:c.3336C>A	XP_006710575.1:p.Ala1112=
XM_006710513.1:c.3312C>A	XP_006710576.1:p.Ala1104=
XM_011541128.1:c.3339C>A	XP_011539430.1:p.Ala1113=
XM_011541129.1:c.3147C>A	XP_011539431.1:p.Ala1049=
XM_017000844.1:c.3509C>A	XP_016856333.1:p.Pro1170His
XM_017000845.1:c.3506C>A	XP_016856334.1:p.Pro1169His
XM_017000846.1:c.3482C>A	XP_016856335.1:p.Pro1161His
XM_017000847.1:c.3479C>A	XP_016856336.1:p.Pro1160His
XM_017000848.1:c.3407C>A	XP_016856337.1:p.Pro1136His
XM_017000849.1:c.3392C>A	XP_016856338.1:p.Pro1131His
XM_017000850.1:c.3317C>A	XP_016856339.1:p.Pro1106His
NM_022089.4:c.3524C>A MANE Select	NP_071372.1:p.Pro1175His
NM_001141973.3:c.3509C>A	NP_001135445.1:p.Pro1170His
NM_001141974.3:c.3222C>A	NP_001135446.1:p.Ala1074=