Canonical Allele Identifier: CA636448

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 441003
• ClinVar RCV Id: RCV000509196 ; RCV000513473
• dbSNP Id: rs375521810
• ExAC: 1:17312692 G / A
• gnomAD v2: 1-17312692-G-A
• gnomAD v3: 1-16986197-G-A
• gnomAD v4: 1-16986197-G-A
• MyVariant Identifiers: chr1:g.17312692G>A (hg19) ; chr1:g.16986197G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986197G>A , CM000663.2:g.16986197G>A	GRCh38
NC_000001.10:g.17312692G>A , CM000663.1:g.17312692G>A	GRCh37
NC_000001.9:g.17185279G>A	NCBI36
NG_009054.1:g.30732C>T
NG_029688.1:g.390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*24C>T MANE Select	ENSP00000327214.8:n.*24C>T
ENST00000326735.12:c.*24C>T	ENSP00000327214.8:n.*24C>T
ENST00000341676.9:c.3265C>T	ENSP00000341115.5:p.His1089Tyr
ENST00000452699.5:c.*24C>T	ENSP00000413307.1:n.*24C>T
ENST00000466561.1:n.1613C>T
ENST00000502418.1:c.985C>T	ENSP00000423065.1:p.His329Tyr
NM_001141973.2:c.*24C>T	NP_001135445.1:n.*24C>T
NM_001141974.2:c.3265C>T	NP_001135446.1:p.His1089Tyr
NM_022089.3:c.*24C>T	NP_071372.1:n.*24C>T
XM_005245809.1:c.3397C>T	XP_005245866.1:p.His1133Tyr
XM_005245810.1:c.3394C>T	XP_005245867.1:p.His1132Tyr
XM_005245811.1:c.3382C>T	XP_005245868.1:p.His1128Tyr
XM_005245812.1:c.3370C>T	XP_005245869.1:p.His1124Tyr
XM_005245813.1:c.3337C>T	XP_005245870.1:p.His1113Tyr
XM_005245815.1:c.3280C>T	XP_005245872.1:p.His1094Tyr
XM_006710512.1:c.3379C>T	XP_006710575.1:p.His1127Tyr
XM_006710513.1:c.3355C>T	XP_006710576.1:p.His1119Tyr
XM_011541128.1:c.3382C>T	XP_011539430.1:p.His1128Tyr
XM_011541129.1:c.3190C>T	XP_011539431.1:p.His1064Tyr
XM_017000844.1:c.*24C>T	XP_016856333.1:n.*24C>T
XM_017000845.1:c.*24C>T	XP_016856334.1:n.*24C>T
XM_017000846.1:c.*24C>T	XP_016856335.1:n.*24C>T
XM_017000847.1:c.*24C>T	XP_016856336.1:n.*24C>T
XM_017000848.1:c.*24C>T	XP_016856337.1:n.*24C>T
XM_017000849.1:c.*24C>T	XP_016856338.1:n.*24C>T
XM_017000850.1:c.*24C>T	XP_016856339.1:n.*24C>T
NM_022089.4:c.*24C>T MANE Select	NP_071372.1:n.*24C>T
NM_001141973.3:c.*24C>T	NP_001135445.1:n.*24C>T
NM_001141974.3:c.3265C>T	NP_001135446.1:p.His1089Tyr