Canonical Allele Identifier: CA636576

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1508485
• ClinVar RCV Id: RCV002016142
• dbSNP Id: rs371220869
• ExAC: 1:17313320 C / T
• gnomAD v2: 1-17313320-C-T
• gnomAD v3: 1-16986825-C-T
• gnomAD v4: 1-16986825-C-T
• MyVariant Identifiers: chr1:g.17313320C>T (hg19) ; chr1:g.16986825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986825C>T , CM000663.2:g.16986825C>T	GRCh38
NC_000001.10:g.17313320C>T , CM000663.1:g.17313320C>T	GRCh37
NC_000001.9:g.17185907C>T	NCBI36
NG_009054.1:g.30104G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3215G>A MANE Select	ENSP00000327214.8:p.Arg1072His
ENST00000326735.12:c.3215G>A	ENSP00000327214.8:p.Arg1072His
ENST00000341676.9:c.3083G>A	ENSP00000341115.5:p.Arg1028His
ENST00000452699.5:c.3200G>A	ENSP00000413307.1:p.Arg1067His
ENST00000466561.1:n.1089G>A
ENST00000502418.1:c.803G>A	ENSP00000423065.1:p.Arg268His
NM_001141973.2:c.3200G>A	NP_001135445.1:p.Arg1067His
NM_001141974.2:c.3083G>A	NP_001135446.1:p.Arg1028His
NM_022089.3:c.3215G>A	NP_071372.1:p.Arg1072His
XM_005245809.1:c.3215G>A	XP_005245866.1:p.Arg1072His
XM_005245810.1:c.3212G>A	XP_005245867.1:p.Arg1071His
XM_005245811.1:c.3200G>A	XP_005245868.1:p.Arg1067His
XM_005245812.1:c.3188G>A	XP_005245869.1:p.Arg1063His
XM_005245813.1:c.3155G>A	XP_005245870.1:p.Arg1052His
XM_005245815.1:c.3098G>A	XP_005245872.1:p.Arg1033His
XM_006710512.1:c.3197G>A	XP_006710575.1:p.Arg1066His
XM_006710513.1:c.3173G>A	XP_006710576.1:p.Arg1058His
XM_011541128.1:c.3200G>A	XP_011539430.1:p.Arg1067His
XM_011541129.1:c.3008G>A	XP_011539431.1:p.Arg1003His
XM_017000844.1:c.3200G>A	XP_016856333.1:p.Arg1067His
XM_017000845.1:c.3197G>A	XP_016856334.1:p.Arg1066His
XM_017000846.1:c.3173G>A	XP_016856335.1:p.Arg1058His
XM_017000847.1:c.3170G>A	XP_016856336.1:p.Arg1057His
XM_017000848.1:c.3098G>A	XP_016856337.1:p.Arg1033His
XM_017000849.1:c.3083G>A	XP_016856338.1:p.Arg1028His
XM_017000850.1:c.3008G>A	XP_016856339.1:p.Arg1003His
NM_022089.4:c.3215G>A MANE Select	NP_071372.1:p.Arg1072His
NM_001141973.3:c.3200G>A	NP_001135445.1:p.Arg1067His
NM_001141974.3:c.3083G>A	NP_001135446.1:p.Arg1028His