Canonical Allele Identifier: CA1430177705
Gene: ATP13A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193448379G= , CM000665.2:g.193448379G= GRCh38
NC_000003.11:g.193166168G= , CM000665.1:g.193166168G= GRCh37
NC_000003.10:g.194648862G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342695.9:c.2028-49C= MANE Select ENSP00000339182.4:n.2028-49C=
ENST00000342695.8:c.2028-49C= ENSP00000339182.4:n.2028-49C=
ENST00000392443.7:c.1971-49C= ENSP00000376238.3:n.1971-49C=
ENST00000428352.5:c.947-49C=
ENST00000450950.6:c.*1471-49C= ENSP00000402023.2:n.*1471-49C=
ENST00000490925.5:n.2136-49C=
NM_032279.3:c.2028-49C= NP_115655.2:n.2028-49C=
XM_005247829.2:c.2028-49C= XP_005247886.1:n.2028-49C=
XM_011513232.1:c.2028-49C= XP_011511534.1:n.2028-49C=
XR_241512.2:n.2329-49C=
XR_924191.1:n.2329-49C=
XM_011513232.2:c.2028-49C= XP_011511534.1:n.2028-49C=
XM_017007318.1:c.1701-49C= XP_016862807.1:n.1701-49C=
XM_017007319.1:c.2028-49C= XP_016862808.1:n.2028-49C=
XR_001740324.2:n.2098-49C=
XR_001740325.1:n.2098-49C=
XR_002959602.1:n.2262-49C=
XR_924191.3:n.2098-49C=
NM_032279.4:c.2028-49C= MANE Select NP_115655.2:n.2028-49C=