Canonical Allele Identifier: CA355784038

Gene: ATP13A4

Linked Data

• MyVariant Identifiers: chr3:g.193185244T>G (hg19) ; chr3:g.193467455T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193467455T>G , CM000665.2:g.193467455T>G	GRCh38
NC_000003.11:g.193185244T>G , CM000665.1:g.193185244T>G	GRCh37
NC_000003.10:g.194667938T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342695.9:c.975A>C MANE Select	ENSP00000339182.4:p.Leu325Phe
ENST00000295548.3:c.975A>C	ENSP00000295548.3:p.Leu325Phe
ENST00000342695.8:c.975A>C	ENSP00000339182.4:p.Leu325Phe
ENST00000392443.7:c.975A>C	ENSP00000376238.3:p.Leu325Phe
ENST00000450950.6:c.*418A>C	ENSP00000402023.2:n.*418A>C
ENST00000490925.5:n.1083A>C
NM_032279.3:c.975A>C	NP_115655.2:p.Leu325Phe
XM_005247829.2:c.975A>C	XP_005247886.1:p.Leu325Phe
XM_011513232.1:c.975A>C	XP_011511534.1:p.Leu325Phe
XR_241512.2:n.1276A>C
XR_924191.1:n.1276A>C
XM_011513232.2:c.975A>C	XP_011511534.1:p.Leu325Phe
XM_017007318.1:c.648A>C	XP_016862807.1:p.Leu216Phe
XM_017007319.1:c.975A>C	XP_016862808.1:p.Leu325Phe
XR_001740324.2:n.1045A>C
XR_001740325.1:n.1045A>C
XR_002959602.1:n.1209A>C
XR_924191.3:n.1045A>C
NM_032279.4:c.975A>C MANE Select	NP_115655.2:p.Leu325Phe