Canonical Allele Identifier: CA2758549
Gene: ATP13A4 HGNC NCBI

Linked Data

dbSNP Id: rs781027036

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193467451T>G , CM000665.2:g.193467451T>G GRCh38
NC_000003.11:g.193185240T>G , CM000665.1:g.193185240T>G GRCh37
NC_000003.10:g.194667934T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342695.9:c.979A>C MANE Select ENSP00000339182.4:p.Lys327Gln
ENST00000295548.3:c.979A>C ENSP00000295548.3:p.Lys327Gln
ENST00000342695.8:c.979A>C ENSP00000339182.4:p.Lys327Gln
ENST00000392443.7:c.979A>C ENSP00000376238.3:p.Lys327Gln
ENST00000450950.6:c.*422A>C ENSP00000402023.2:n.*422A>C
ENST00000490925.5:n.1087A>C
NM_032279.3:c.979A>C NP_115655.2:p.Lys327Gln
XM_005247829.2:c.979A>C XP_005247886.1:p.Lys327Gln
XM_011513232.1:c.979A>C XP_011511534.1:p.Lys327Gln
XR_241512.2:n.1280A>C
XR_924191.1:n.1280A>C
XM_011513232.2:c.979A>C XP_011511534.1:p.Lys327Gln
XM_017007318.1:c.652A>C XP_016862807.1:p.Lys218Gln
XM_017007319.1:c.979A>C XP_016862808.1:p.Lys327Gln
XR_001740324.2:n.1049A>C
XR_001740325.1:n.1049A>C
XR_002959602.1:n.1213A>C
XR_924191.3:n.1049A>C
NM_032279.4:c.979A>C MANE Select NP_115655.2:p.Lys327Gln