Canonical Allele Identifier: CA1239706381
Gene: HADHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26204065T= , CM000664.2:g.26204065T= GRCh38
NC_000002.11:g.26426934T= , CM000664.1:g.26426934T= GRCh37
NC_000002.10:g.26280438T= NCBI36
NG_007121.1:g.45556A=
NG_007121.2:g.45557A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1217A= MANE Select ENSP00000370023.3:p.Lys406=
ENST00000492433.2:c.1217A= ENSP00000438039.2:p.Lys406=
ENST00000643057.1:c.*1108A= ENSP00000493761.1:n.*1108A=
ENST00000643063.1:c.*263A= ENSP00000495353.1:n.*263A=
ENST00000643233.1:c.*1108A= ENSP00000493880.1:n.*1108A=
ENST00000644428.1:c.1217A= ENSP00000495560.1:p.Lys406=
ENST00000645274.1:c.1112A= ENSP00000493996.1:p.Lys371=
ENST00000646031.1:c.576A=
ENST00000646483.1:c.1083A= ENSP00000496185.1:n.1083A=
ENST00000380649.7:c.1217A= ENSP00000370023.3:p.Lys406=
NM_000182.4:c.1217A= NP_000173.2:p.Lys406=
NM_000182.5:c.1217A= MANE Select NP_000173.2:p.Lys406=