Canonical Allele Identifier: CA355783925

Gene: ATP13A4

Linked Data

• dbSNP Id: rs1187313318
• gnomAD v2: 3-193185194-T-C
• gnomAD v3: 3-193467405-T-C
• gnomAD v4: 3-193467405-T-C
• MyVariant Identifiers: chr3:g.193185194T>C (hg19) ; chr3:g.193467405T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467405T>C , CM000665.2:g.193467405T>C	GRCh38
NC_000003.11:g.193185194T>C , CM000665.1:g.193185194T>C	GRCh37
NC_000003.10:g.194667888T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.1025A>G MANE Select	ENSP00000339182.4:p.Tyr342Cys
ENST00000295548.3:c.1025A>G	ENSP00000295548.3:p.Tyr342Cys
ENST00000342695.8:c.1025A>G	ENSP00000339182.4:p.Tyr342Cys
ENST00000392443.7:c.1025A>G	ENSP00000376238.3:p.Tyr342Cys
ENST00000450950.6:c.*468A>G	ENSP00000402023.2:n.*468A>G
ENST00000490925.5:n.1133A>G
NM_032279.3:c.1025A>G	NP_115655.2:p.Tyr342Cys
XM_005247829.2:c.1025A>G	XP_005247886.1:p.Tyr342Cys
XM_011513232.1:c.1025A>G	XP_011511534.1:p.Tyr342Cys
XR_241512.2:n.1326A>G
XR_924191.1:n.1326A>G
XM_011513232.2:c.1025A>G	XP_011511534.1:p.Tyr342Cys
XM_017007318.1:c.698A>G	XP_016862807.1:p.Tyr233Cys
XM_017007319.1:c.1025A>G	XP_016862808.1:p.Tyr342Cys
XR_001740324.2:n.1095A>G
XR_001740325.1:n.1095A>G
XR_002959602.1:n.1259A>G
XR_924191.3:n.1095A>G
NM_032279.4:c.1025A>G MANE Select	NP_115655.2:p.Tyr342Cys