Canonical Allele Identifier: CA239659

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17000057G>A , CM000663.2:g.17000057G>A	GRCh38
NC_000001.10:g.17326552G>A , CM000663.1:g.17326552G>A	GRCh37
NC_000001.9:g.17199139G>A	NCBI36
NG_009054.1:g.16872C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.993C>T MANE Select	NP_071372.1:p.Ala331=
ENST00000326735.13:c.993C>T MANE Select	ENSP00000327214.8:p.Ala331=
NM_001141973.2:c.978C>T	NP_001135445.1:p.Ala326=
NM_001141973.3:c.978C>T	NP_001135445.1:p.Ala326=
NM_001141974.2:c.978C>T	NP_001135446.1:p.Ala326=
NM_001141974.3:c.978C>T	NP_001135446.1:p.Ala326=
NM_022089.3:c.993C>T	NP_071372.1:p.Ala331=
ENST00000326735.12:c.993C>T	ENSP00000327214.8:p.Ala331=
ENST00000341676.9:c.978C>T	ENSP00000341115.5:p.Ala326=
ENST00000452699.5:c.978C>T	ENSP00000413307.1:p.Ala326=
ENST00000463860.5:n.601C>T
ENST00000502860.1:n.132C>T
ENST00000506174.5:c.153C>T	ENSP00000424393.1:p.Ala51=
ENST00000510069.5:c.916C>T
ENST00000617114.4:c.132C>T	ENSP00000478781.1:p.Ala44=
XM_005245809.1:c.993C>T	XP_005245866.1:p.Ala331=
XM_005245810.1:c.990C>T	XP_005245867.1:p.Ala330=
XM_005245811.1:c.978C>T	XP_005245868.1:p.Ala326=
XM_005245812.1:c.966C>T	XP_005245869.1:p.Ala322=
XM_005245813.1:c.993C>T	XP_005245870.1:p.Ala331=
XM_005245815.1:c.993C>T	XP_005245872.1:p.Ala331=
XM_006710512.1:c.975C>T	XP_006710575.1:p.Ala325=
XM_006710513.1:c.951C>T	XP_006710576.1:p.Ala317=
XM_011541128.1:c.993C>T	XP_011539430.1:p.Ala331=
XM_011541129.1:c.993C>T	XP_011539431.1:p.Ala331=
XM_017000844.1:c.993C>T	XP_016856333.1:p.Ala331=
XM_017000845.1:c.975C>T	XP_016856334.1:p.Ala325=
XM_017000846.1:c.951C>T	XP_016856335.1:p.Ala317=
XM_017000847.1:c.963C>T	XP_016856336.1:p.Ala321=
XM_017000848.1:c.993C>T	XP_016856337.1:p.Ala331=
XM_017000849.1:c.978C>T	XP_016856338.1:p.Ala326=
XM_017000850.1:c.993C>T	XP_016856339.1:p.Ala331=