Canonical Allele Identifier: CA346129870

Gene: HADHA

Linked Data

• COSMIC: COSM4414193
• MyVariant Identifiers: chr2:g.26427053A>C (hg19) ; chr2:g.26204184A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204184A>C , CM000664.2:g.26204184A>C	GRCh38
NC_000002.11:g.26427053A>C , CM000664.1:g.26427053A>C	GRCh37
NC_000002.10:g.26280557A>C	NCBI36
NG_007121.1:g.45437T>G
NG_007121.2:g.45438T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1098T>G MANE Select	ENSP00000370023.3:p.Ile366Met
ENST00000492433.2:c.1098T>G	ENSP00000438039.2:p.Ile366Met
ENST00000643057.1:c.*989T>G	ENSP00000493761.1:n.*989T>G
ENST00000643063.1:c.*144T>G	ENSP00000495353.1:n.*144T>G
ENST00000643233.1:c.*989T>G	ENSP00000493880.1:n.*989T>G
ENST00000644428.1:c.1098T>G	ENSP00000495560.1:p.Ile366Met
ENST00000645274.1:c.993T>G	ENSP00000493996.1:p.Ile331Met
ENST00000646031.1:c.457T>G
ENST00000646483.1:c.964T>G	ENSP00000496185.1:n.964T>G
ENST00000380649.7:c.1098T>G	ENSP00000370023.3:p.Ile366Met
NM_000182.4:c.1098T>G	NP_000173.2:p.Ile366Met
NM_000182.5:c.1098T>G MANE Select	NP_000173.2:p.Ile366Met