Canonical Allele Identifier: CA1430187636
Gene: ATP13A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193467409C= , CM000665.2:g.193467409C= GRCh38
NC_000003.11:g.193185198C= , CM000665.1:g.193185198C= GRCh37
NC_000003.10:g.194667892C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342695.9:c.1021G= MANE Select ENSP00000339182.4:p.Asp341=
ENST00000295548.3:c.1021G= ENSP00000295548.3:p.Asp341=
ENST00000342695.8:c.1021G= ENSP00000339182.4:p.Asp341=
ENST00000392443.7:c.1021G= ENSP00000376238.3:p.Asp341=
ENST00000450950.6:c.*464G= ENSP00000402023.2:n.*464G=
ENST00000490925.5:n.1129G=
NM_032279.3:c.1021G= NP_115655.2:p.Asp341=
XM_005247829.2:c.1021G= XP_005247886.1:p.Asp341=
XM_011513232.1:c.1021G= XP_011511534.1:p.Asp341=
XR_241512.2:n.1322G=
XR_924191.1:n.1322G=
XM_011513232.2:c.1021G= XP_011511534.1:p.Asp341=
XM_017007318.1:c.694G= XP_016862807.1:p.Asp232=
XM_017007319.1:c.1021G= XP_016862808.1:p.Asp341=
XR_001740324.2:n.1091G=
XR_001740325.1:n.1091G=
XR_002959602.1:n.1255G=
XR_924191.3:n.1091G=
NM_032279.4:c.1021G= MANE Select NP_115655.2:p.Asp341=