Canonical Allele Identifier: CA355784044
Gene: ATP13A4 HGNC NCBI

Linked Data

dbSNP Id: rs142240483

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193467459G>T , CM000665.2:g.193467459G>T GRCh38
NC_000003.11:g.193185248G>T , CM000665.1:g.193185248G>T GRCh37
NC_000003.10:g.194667942G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342695.9:c.971C>A MANE Select ENSP00000339182.4:p.Pro324Gln
ENST00000295548.3:c.971C>A ENSP00000295548.3:p.Pro324Gln
ENST00000342695.8:c.971C>A ENSP00000339182.4:p.Pro324Gln
ENST00000392443.7:c.971C>A ENSP00000376238.3:p.Pro324Gln
ENST00000450950.6:c.*414C>A ENSP00000402023.2:n.*414C>A
ENST00000490925.5:n.1079C>A
NM_032279.3:c.971C>A NP_115655.2:p.Pro324Gln
XM_005247829.2:c.971C>A XP_005247886.1:p.Pro324Gln
XM_011513232.1:c.971C>A XP_011511534.1:p.Pro324Gln
XR_241512.2:n.1272C>A
XR_924191.1:n.1272C>A
XM_011513232.2:c.971C>A XP_011511534.1:p.Pro324Gln
XM_017007318.1:c.644C>A XP_016862807.1:p.Pro215Gln
XM_017007319.1:c.971C>A XP_016862808.1:p.Pro324Gln
XR_001740324.2:n.1041C>A
XR_001740325.1:n.1041C>A
XR_002959602.1:n.1205C>A
XR_924191.3:n.1041C>A
NM_032279.4:c.971C>A MANE Select NP_115655.2:p.Pro324Gln