Canonical Allele Identifier: CA355783978

Gene: ATP13A4

Linked Data

• gnomAD v4: 3-193467428-C-G
• MyVariant Identifiers: chr3:g.193185217C>G (hg19) ; chr3:g.193467428C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467428C>G , CM000665.2:g.193467428C>G	GRCh38
NC_000003.11:g.193185217C>G , CM000665.1:g.193185217C>G	GRCh37
NC_000003.10:g.194667911C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.1002G>C MANE Select	ENSP00000339182.4:p.Trp334Cys
ENST00000295548.3:c.1002G>C	ENSP00000295548.3:p.Trp334Cys
ENST00000342695.8:c.1002G>C	ENSP00000339182.4:p.Trp334Cys
ENST00000392443.7:c.1002G>C	ENSP00000376238.3:p.Trp334Cys
ENST00000450950.6:c.*445G>C	ENSP00000402023.2:n.*445G>C
ENST00000490925.5:n.1110G>C
NM_032279.3:c.1002G>C	NP_115655.2:p.Trp334Cys
XM_005247829.2:c.1002G>C	XP_005247886.1:p.Trp334Cys
XM_011513232.1:c.1002G>C	XP_011511534.1:p.Trp334Cys
XR_241512.2:n.1303G>C
XR_924191.1:n.1303G>C
XM_011513232.2:c.1002G>C	XP_011511534.1:p.Trp334Cys
XM_017007318.1:c.675G>C	XP_016862807.1:p.Trp225Cys
XM_017007319.1:c.1002G>C	XP_016862808.1:p.Trp334Cys
XR_001740324.2:n.1072G>C
XR_001740325.1:n.1072G>C
XR_002959602.1:n.1236G>C
XR_924191.3:n.1072G>C
NM_032279.4:c.1002G>C MANE Select	NP_115655.2:p.Trp334Cys