Canonical Allele Identifier: CA2749233069

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204288T>C , CM000664.2:g.26204288T>C	GRCh38
NC_000002.11:g.26427157T>C , CM000664.1:g.26427157T>C	GRCh37
NC_000002.10:g.26280661T>C	NCBI36
NG_007121.1:g.45333A>G
NG_007121.2:g.45334A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1086-92A>G MANE Select	ENSP00000370023.3:n.1086-92A>G
ENST00000492433.2:c.1086-92A>G	ENSP00000438039.2:n.1086-92A>G
ENST00000643057.1:c.*977-92A>G	ENSP00000493761.1:n.*977-92A>G
ENST00000643063.1:c.*132-92A>G	ENSP00000495353.1:n.*132-92A>G
ENST00000643233.1:c.*977-92A>G	ENSP00000493880.1:n.*977-92A>G
ENST00000644428.1:c.1086-92A>G	ENSP00000495560.1:n.1086-92A>G
ENST00000645274.1:c.981-92A>G	ENSP00000493996.1:n.981-92A>G
ENST00000646031.1:c.445-92A>G
ENST00000646483.1:c.952-92A>G	ENSP00000496185.1:n.952-92A>G
ENST00000380649.7:c.1086-92A>G	ENSP00000370023.3:n.1086-92A>G
NM_000182.4:c.1086-92A>G	NP_000173.2:n.1086-92A>G
NM_000182.5:c.1086-92A>G MANE Select	NP_000173.2:n.1086-92A>G