Canonical Allele Identifier: CA355784072

Gene: ATP13A4

Linked Data

• dbSNP Id: rs1309521799
• gnomAD v2: 3-193185261-C-T
• gnomAD v4: 3-193467472-C-T
• MyVariant Identifiers: chr3:g.193185261C>T (hg19) ; chr3:g.193467472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467472C>T , CM000665.2:g.193467472C>T	GRCh38
NC_000003.11:g.193185261C>T , CM000665.1:g.193185261C>T	GRCh37
NC_000003.10:g.194667955C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.958G>A MANE Select	ENSP00000339182.4:p.Val320Ile
ENST00000295548.3:c.958G>A	ENSP00000295548.3:p.Val320Ile
ENST00000342695.8:c.958G>A	ENSP00000339182.4:p.Val320Ile
ENST00000392443.7:c.958G>A	ENSP00000376238.3:p.Val320Ile
ENST00000450950.6:c.*401G>A	ENSP00000402023.2:n.*401G>A
ENST00000490925.5:n.1066G>A
NM_032279.3:c.958G>A	NP_115655.2:p.Val320Ile
XM_005247829.2:c.958G>A	XP_005247886.1:p.Val320Ile
XM_011513232.1:c.958G>A	XP_011511534.1:p.Val320Ile
XR_241512.2:n.1259G>A
XR_924191.1:n.1259G>A
XM_011513232.2:c.958G>A	XP_011511534.1:p.Val320Ile
XM_017007318.1:c.631G>A	XP_016862807.1:p.Val211Ile
XM_017007319.1:c.958G>A	XP_016862808.1:p.Val320Ile
XR_001740324.2:n.1028G>A
XR_001740325.1:n.1028G>A
XR_002959602.1:n.1192G>A
XR_924191.3:n.1028G>A
NM_032279.4:c.958G>A MANE Select	NP_115655.2:p.Val320Ile