Canonical Allele Identifier: CA1239706408
Gene: HADHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26204131C= , CM000664.2:g.26204131C= GRCh38
NC_000002.11:g.26427000C= , CM000664.1:g.26427000C= GRCh37
NC_000002.10:g.26280504C= NCBI36
NG_007121.1:g.45490G=
NG_007121.2:g.45491G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1151G= MANE Select ENSP00000370023.3:p.Gly384=
ENST00000492433.2:c.1151G= ENSP00000438039.2:p.Gly384=
ENST00000643057.1:c.*1042G= ENSP00000493761.1:n.*1042G=
ENST00000643063.1:c.*197G= ENSP00000495353.1:n.*197G=
ENST00000643233.1:c.*1042G= ENSP00000493880.1:n.*1042G=
ENST00000644428.1:c.1151G= ENSP00000495560.1:p.Gly384=
ENST00000645274.1:c.1046G= ENSP00000493996.1:p.Gly349=
ENST00000646031.1:c.510G=
ENST00000646483.1:c.1017G= ENSP00000496185.1:n.1017G=
ENST00000380649.7:c.1151G= ENSP00000370023.3:p.Gly384=
NM_000182.4:c.1151G= NP_000173.2:p.Gly384=
NM_000182.5:c.1151G= MANE Select NP_000173.2:p.Gly384=