Canonical Allele Identifier: CA1430187635
Gene: ATP13A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193467408T= , CM000665.2:g.193467408T= GRCh38
NC_000003.11:g.193185197T= , CM000665.1:g.193185197T= GRCh37
NC_000003.10:g.194667891T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342695.9:c.1022A= MANE Select ENSP00000339182.4:p.Asp341=
ENST00000295548.3:c.1022A= ENSP00000295548.3:p.Asp341=
ENST00000342695.8:c.1022A= ENSP00000339182.4:p.Asp341=
ENST00000392443.7:c.1022A= ENSP00000376238.3:p.Asp341=
ENST00000450950.6:c.*465A= ENSP00000402023.2:n.*465A=
ENST00000490925.5:n.1130A=
NM_032279.3:c.1022A= NP_115655.2:p.Asp341=
XM_005247829.2:c.1022A= XP_005247886.1:p.Asp341=
XM_011513232.1:c.1022A= XP_011511534.1:p.Asp341=
XR_241512.2:n.1323A=
XR_924191.1:n.1323A=
XM_011513232.2:c.1022A= XP_011511534.1:p.Asp341=
XM_017007318.1:c.695A= XP_016862807.1:p.Asp232=
XM_017007319.1:c.1022A= XP_016862808.1:p.Asp341=
XR_001740324.2:n.1092A=
XR_001740325.1:n.1092A=
XR_002959602.1:n.1256A=
XR_924191.3:n.1092A=
NM_032279.4:c.1022A= MANE Select NP_115655.2:p.Asp341=