Canonical Allele Identifier: CA338232910

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986530-T-A
• MyVariant Identifiers: chr1:g.17313025T>A (hg19) ; chr1:g.16986530T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986530T>A , CM000663.2:g.16986530T>A	GRCh38
NC_000001.10:g.17313025T>A , CM000663.1:g.17313025T>A	GRCh37
NC_000001.9:g.17185612T>A	NCBI36
NG_009054.1:g.30399A>T
NG_029688.1:g.57A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3338A>T MANE Select	ENSP00000327214.8:p.Asp1113Val
ENST00000326735.12:c.3338A>T	ENSP00000327214.8:p.Asp1113Val
ENST00000341676.9:c.3104-172A>T	ENSP00000341115.5:n.3104-172A>T
ENST00000452699.5:c.3323A>T	ENSP00000413307.1:p.Asp1108Val
ENST00000466561.1:n.1384A>T
ENST00000502418.1:c.824-172A>T	ENSP00000423065.1:n.824-172A>T
NM_001141973.2:c.3323A>T	NP_001135445.1:p.Asp1108Val
NM_001141974.2:c.3104-172A>T	NP_001135446.1:n.3104-172A>T
NM_022089.3:c.3338A>T	NP_071372.1:p.Asp1113Val
XM_005245809.1:c.3236-172A>T	XP_005245866.1:n.3236-172A>T
XM_005245810.1:c.3233-172A>T	XP_005245867.1:n.3233-172A>T
XM_005245811.1:c.3221-172A>T	XP_005245868.1:n.3221-172A>T
XM_005245812.1:c.3209-172A>T	XP_005245869.1:n.3209-172A>T
XM_005245813.1:c.3176-172A>T	XP_005245870.1:n.3176-172A>T
XM_005245815.1:c.3119-172A>T	XP_005245872.1:n.3119-172A>T
XM_006710512.1:c.3218-172A>T	XP_006710575.1:n.3218-172A>T
XM_006710513.1:c.3194-172A>T	XP_006710576.1:n.3194-172A>T
XM_011541128.1:c.3221-172A>T	XP_011539430.1:n.3221-172A>T
XM_011541129.1:c.3029-172A>T	XP_011539431.1:n.3029-172A>T
XM_017000844.1:c.3323A>T	XP_016856333.1:p.Asp1108Val
XM_017000845.1:c.3320A>T	XP_016856334.1:p.Asp1107Val
XM_017000846.1:c.3296A>T	XP_016856335.1:p.Asp1099Val
XM_017000847.1:c.3293A>T	XP_016856336.1:p.Asp1098Val
XM_017000848.1:c.3221A>T	XP_016856337.1:p.Asp1074Val
XM_017000849.1:c.3206A>T	XP_016856338.1:p.Asp1069Val
XM_017000850.1:c.3131A>T	XP_016856339.1:p.Asp1044Val
NM_022089.4:c.3338A>T MANE Select	NP_071372.1:p.Asp1113Val
NM_001141973.3:c.3323A>T	NP_001135445.1:p.Asp1108Val
NM_001141974.3:c.3104-172A>T	NP_001135446.1:n.3104-172A>T