Canonical Allele Identifier: CA1430187637
Gene: ATP13A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193467410C= , CM000665.2:g.193467410C= GRCh38
NC_000003.11:g.193185199C= , CM000665.1:g.193185199C= GRCh37
NC_000003.10:g.194667893C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342695.9:c.1020G= MANE Select ENSP00000339182.4:p.Ala340=
ENST00000295548.3:c.1020G= ENSP00000295548.3:p.Ala340=
ENST00000342695.8:c.1020G= ENSP00000339182.4:p.Ala340=
ENST00000392443.7:c.1020G= ENSP00000376238.3:p.Ala340=
ENST00000450950.6:c.*463G= ENSP00000402023.2:n.*463G=
ENST00000490925.5:n.1128G=
NM_032279.3:c.1020G= NP_115655.2:p.Ala340=
XM_005247829.2:c.1020G= XP_005247886.1:p.Ala340=
XM_011513232.1:c.1020G= XP_011511534.1:p.Ala340=
XR_241512.2:n.1321G=
XR_924191.1:n.1321G=
XM_011513232.2:c.1020G= XP_011511534.1:p.Ala340=
XM_017007318.1:c.693G= XP_016862807.1:p.Ala231=
XM_017007319.1:c.1020G= XP_016862808.1:p.Ala340=
XR_001740324.2:n.1090G=
XR_001740325.1:n.1090G=
XR_002959602.1:n.1254G=
XR_924191.3:n.1090G=
NM_032279.4:c.1020G= MANE Select NP_115655.2:p.Ala340=