Canonical Allele Identifier: CA338230522

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986046-G-T
• MyVariant Identifiers: chr1:g.17312541G>T (hg19) ; chr1:g.16986046G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986046G>T , CM000663.2:g.16986046G>T	GRCh38
NC_000001.10:g.17312541G>T , CM000663.1:g.17312541G>T	GRCh37
NC_000001.9:g.17185128G>T	NCBI36
NG_009054.1:g.30883C>A
NG_029688.1:g.541C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*175C>A MANE Select	ENSP00000327214.8:n.*175C>A
ENST00000326735.12:c.*175C>A	ENSP00000327214.8:n.*175C>A
ENST00000341676.9:c.3416C>A	ENSP00000341115.5:p.Pro1139His
ENST00000452699.5:c.*175C>A	ENSP00000413307.1:n.*175C>A
ENST00000466561.1:n.1764C>A
ENST00000502418.1:c.1136C>A	ENSP00000423065.1:p.Pro379His
NM_001141973.2:c.*175C>A	NP_001135445.1:n.*175C>A
NM_001141974.2:c.3416C>A	NP_001135446.1:p.Pro1139His
NM_022089.3:c.*175C>A	NP_071372.1:n.*175C>A
XM_005245809.1:c.3548C>A	XP_005245866.1:p.Pro1183His
XM_005245810.1:c.3545C>A	XP_005245867.1:p.Pro1182His
XM_005245811.1:c.3533C>A	XP_005245868.1:p.Pro1178His
XM_005245812.1:c.3521C>A	XP_005245869.1:p.Pro1174His
XM_005245813.1:c.3488C>A	XP_005245870.1:p.Pro1163His
XM_005245815.1:c.3431C>A	XP_005245872.1:p.Pro1144His
XM_006710512.1:c.3530C>A	XP_006710575.1:p.Pro1177His
XM_006710513.1:c.3506C>A	XP_006710576.1:p.Pro1169His
XM_011541128.1:c.3533C>A	XP_011539430.1:p.Pro1178His
XM_011541129.1:c.3341C>A	XP_011539431.1:p.Pro1114His
XM_017000844.1:c.*175C>A	XP_016856333.1:n.*175C>A
XM_017000845.1:c.*175C>A	XP_016856334.1:n.*175C>A
XM_017000846.1:c.*175C>A	XP_016856335.1:n.*175C>A
XM_017000847.1:c.*175C>A	XP_016856336.1:n.*175C>A
XM_017000848.1:c.*175C>A	XP_016856337.1:n.*175C>A
XM_017000849.1:c.*175C>A	XP_016856338.1:n.*175C>A
XM_017000850.1:c.*175C>A	XP_016856339.1:n.*175C>A
NM_022089.4:c.*175C>A MANE Select	NP_071372.1:n.*175C>A
NM_001141973.3:c.*175C>A	NP_001135445.1:n.*175C>A
NM_001141974.3:c.3416C>A	NP_001135446.1:p.Pro1139His