Canonical Allele Identifier: CA2758545

Gene: ATP13A4

Linked Data

• dbSNP Id: rs780531621
• ExAC: 3:193185229 G / C
• gnomAD v2: 3-193185229-G-C
• gnomAD v4: 3-193467440-G-C
• MyVariant Identifiers: chr3:g.193185229G>C (hg19) ; chr3:g.193467440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467440G>C , CM000665.2:g.193467440G>C	GRCh38
NC_000003.11:g.193185229G>C , CM000665.1:g.193185229G>C	GRCh37
NC_000003.10:g.194667923G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.990C>G MANE Select	ENSP00000339182.4:p.Ser330Arg
ENST00000295548.3:c.990C>G	ENSP00000295548.3:p.Ser330Arg
ENST00000342695.8:c.990C>G	ENSP00000339182.4:p.Ser330Arg
ENST00000392443.7:c.990C>G	ENSP00000376238.3:p.Ser330Arg
ENST00000450950.6:c.*433C>G	ENSP00000402023.2:n.*433C>G
ENST00000490925.5:n.1098C>G
NM_032279.3:c.990C>G	NP_115655.2:p.Ser330Arg
XM_005247829.2:c.990C>G	XP_005247886.1:p.Ser330Arg
XM_011513232.1:c.990C>G	XP_011511534.1:p.Ser330Arg
XR_241512.2:n.1291C>G
XR_924191.1:n.1291C>G
XM_011513232.2:c.990C>G	XP_011511534.1:p.Ser330Arg
XM_017007318.1:c.663C>G	XP_016862807.1:p.Ser221Arg
XM_017007319.1:c.990C>G	XP_016862808.1:p.Ser330Arg
XR_001740324.2:n.1060C>G
XR_001740325.1:n.1060C>G
XR_002959602.1:n.1224C>G
XR_924191.3:n.1060C>G
NM_032279.4:c.990C>G MANE Select	NP_115655.2:p.Ser330Arg