Canonical Allele Identifier: CA1239706430
Gene: HADHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26204195G= , CM000664.2:g.26204195G= GRCh38
NC_000002.11:g.26427064G= , CM000664.1:g.26427064G= GRCh37
NC_000002.10:g.26280568G= NCBI36
NG_007121.1:g.45426C=
NG_007121.2:g.45427C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1087C= MANE Select ENSP00000370023.3:p.His363=
ENST00000492433.2:c.1087C= ENSP00000438039.2:p.His363=
ENST00000643057.1:c.*978C= ENSP00000493761.1:n.*978C=
ENST00000643063.1:c.*133C= ENSP00000495353.1:n.*133C=
ENST00000643233.1:c.*978C= ENSP00000493880.1:n.*978C=
ENST00000644428.1:c.1087C= ENSP00000495560.1:p.His363=
ENST00000645274.1:c.982C= ENSP00000493996.1:p.His328=
ENST00000646031.1:c.446C=
ENST00000646483.1:c.953C= ENSP00000496185.1:n.953C=
ENST00000380649.7:c.1087C= ENSP00000370023.3:p.His363=
NM_000182.4:c.1087C= NP_000173.2:p.His363=
NM_000182.5:c.1087C= MANE Select NP_000173.2:p.His363=