Canonical Allele Identifier: CA338232888

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1278403324
• gnomAD v4: 1-16986524-C-T
• MyVariant Identifiers: chr1:g.17313019C>T (hg19) ; chr1:g.16986524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986524C>T , CM000663.2:g.16986524C>T	GRCh38
NC_000001.10:g.17313019C>T , CM000663.1:g.17313019C>T	GRCh37
NC_000001.9:g.17185606C>T	NCBI36
NG_009054.1:g.30405G>A
NG_029688.1:g.63G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3344G>A MANE Select	ENSP00000327214.8:p.Gly1115Asp
ENST00000326735.12:c.3344G>A	ENSP00000327214.8:p.Gly1115Asp
ENST00000341676.9:c.3104-166G>A	ENSP00000341115.5:n.3104-166G>A
ENST00000452699.5:c.3329G>A	ENSP00000413307.1:p.Gly1110Asp
ENST00000466561.1:n.1390G>A
ENST00000502418.1:c.824-166G>A	ENSP00000423065.1:n.824-166G>A
NM_001141973.2:c.3329G>A	NP_001135445.1:p.Gly1110Asp
NM_001141974.2:c.3104-166G>A	NP_001135446.1:n.3104-166G>A
NM_022089.3:c.3344G>A	NP_071372.1:p.Gly1115Asp
XM_005245809.1:c.3236-166G>A	XP_005245866.1:n.3236-166G>A
XM_005245810.1:c.3233-166G>A	XP_005245867.1:n.3233-166G>A
XM_005245811.1:c.3221-166G>A	XP_005245868.1:n.3221-166G>A
XM_005245812.1:c.3209-166G>A	XP_005245869.1:n.3209-166G>A
XM_005245813.1:c.3176-166G>A	XP_005245870.1:n.3176-166G>A
XM_005245815.1:c.3119-166G>A	XP_005245872.1:n.3119-166G>A
XM_006710512.1:c.3218-166G>A	XP_006710575.1:n.3218-166G>A
XM_006710513.1:c.3194-166G>A	XP_006710576.1:n.3194-166G>A
XM_011541128.1:c.3221-166G>A	XP_011539430.1:n.3221-166G>A
XM_011541129.1:c.3029-166G>A	XP_011539431.1:n.3029-166G>A
XM_017000844.1:c.3329G>A	XP_016856333.1:p.Gly1110Asp
XM_017000845.1:c.3326G>A	XP_016856334.1:p.Gly1109Asp
XM_017000846.1:c.3302G>A	XP_016856335.1:p.Gly1101Asp
XM_017000847.1:c.3299G>A	XP_016856336.1:p.Gly1100Asp
XM_017000848.1:c.3227G>A	XP_016856337.1:p.Gly1076Asp
XM_017000849.1:c.3212G>A	XP_016856338.1:p.Gly1071Asp
XM_017000850.1:c.3137G>A	XP_016856339.1:p.Gly1046Asp
NM_022089.4:c.3344G>A MANE Select	NP_071372.1:p.Gly1115Asp
NM_001141973.3:c.3329G>A	NP_001135445.1:p.Gly1110Asp
NM_001141974.3:c.3104-166G>A	NP_001135446.1:n.3104-166G>A