Canonical Allele Identifier: CA355784012

Gene: ATP13A4

Linked Data

• dbSNP Id: rs1317768520
• gnomAD v2: 3-193185233-T-C
• gnomAD v3: 3-193467444-T-C
• gnomAD v4: 3-193467444-T-C
• MyVariant Identifiers: chr3:g.193185233T>C (hg19) ; chr3:g.193185233_193185234delinsCC (hg19) ; chr3:g.193467444T>C (hg38) ; chr3:g.193467444_193467445delinsCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467444T>C , CM000665.2:g.193467444T>C	GRCh38
NC_000003.11:g.193185233T>C , CM000665.1:g.193185233T>C	GRCh37
NC_000003.10:g.194667927T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.986A>G MANE Select	ENSP00000339182.4:p.Asp329Gly
ENST00000295548.3:c.986A>G	ENSP00000295548.3:p.Asp329Gly
ENST00000342695.8:c.986A>G	ENSP00000339182.4:p.Asp329Gly
ENST00000392443.7:c.986A>G	ENSP00000376238.3:p.Asp329Gly
ENST00000450950.6:c.*429A>G	ENSP00000402023.2:n.*429A>G
ENST00000490925.5:n.1094A>G
NM_032279.3:c.986A>G	NP_115655.2:p.Asp329Gly
XM_005247829.2:c.986A>G	XP_005247886.1:p.Asp329Gly
XM_011513232.1:c.986A>G	XP_011511534.1:p.Asp329Gly
XR_241512.2:n.1287A>G
XR_924191.1:n.1287A>G
XM_011513232.2:c.986A>G	XP_011511534.1:p.Asp329Gly
XM_017007318.1:c.659A>G	XP_016862807.1:p.Asp220Gly
XM_017007319.1:c.986A>G	XP_016862808.1:p.Asp329Gly
XR_001740324.2:n.1056A>G
XR_001740325.1:n.1056A>G
XR_002959602.1:n.1220A>G
XR_924191.3:n.1056A>G
NM_032279.4:c.986A>G MANE Select	NP_115655.2:p.Asp329Gly