Canonical Allele Identifier: CA2758540
Gene: ATP13A4 HGNC NCBI

Linked Data

dbSNP Id: rs753847570

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193467411G>A , CM000665.2:g.193467411G>A GRCh38
NC_000003.11:g.193185200G>A , CM000665.1:g.193185200G>A GRCh37
NC_000003.10:g.194667894G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342695.9:c.1019C>T MANE Select ENSP00000339182.4:p.Ala340Val
ENST00000295548.3:c.1019C>T ENSP00000295548.3:p.Ala340Val
ENST00000342695.8:c.1019C>T ENSP00000339182.4:p.Ala340Val
ENST00000392443.7:c.1019C>T ENSP00000376238.3:p.Ala340Val
ENST00000450950.6:c.*462C>T ENSP00000402023.2:n.*462C>T
ENST00000490925.5:n.1127C>T
NM_032279.3:c.1019C>T NP_115655.2:p.Ala340Val
XM_005247829.2:c.1019C>T XP_005247886.1:p.Ala340Val
XM_011513232.1:c.1019C>T XP_011511534.1:p.Ala340Val
XR_241512.2:n.1320C>T
XR_924191.1:n.1320C>T
XM_011513232.2:c.1019C>T XP_011511534.1:p.Ala340Val
XM_017007318.1:c.692C>T XP_016862807.1:p.Ala231Val
XM_017007319.1:c.1019C>T XP_016862808.1:p.Ala340Val
XR_001740324.2:n.1089C>T
XR_001740325.1:n.1089C>T
XR_002959602.1:n.1253C>T
XR_924191.3:n.1089C>T
NM_032279.4:c.1019C>T MANE Select NP_115655.2:p.Ala340Val