Canonical Allele Identifier: CA346129884

Gene: HADHA

Linked Data

• gnomAD v4: 2-26204185-A-G
• COSMIC: COSM240068
• MyVariant Identifiers: chr2:g.26427054A>G (hg19) ; chr2:g.26204185A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204185A>G , CM000664.2:g.26204185A>G	GRCh38
NC_000002.11:g.26427054A>G , CM000664.1:g.26427054A>G	GRCh37
NC_000002.10:g.26280558A>G	NCBI36
NG_007121.1:g.45436T>C
NG_007121.2:g.45437T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1097T>C MANE Select	ENSP00000370023.3:p.Ile366Thr
ENST00000492433.2:c.1097T>C	ENSP00000438039.2:p.Ile366Thr
ENST00000643057.1:c.*988T>C	ENSP00000493761.1:n.*988T>C
ENST00000643063.1:c.*143T>C	ENSP00000495353.1:n.*143T>C
ENST00000643233.1:c.*988T>C	ENSP00000493880.1:n.*988T>C
ENST00000644428.1:c.1097T>C	ENSP00000495560.1:p.Ile366Thr
ENST00000645274.1:c.992T>C	ENSP00000493996.1:p.Ile331Thr
ENST00000646031.1:c.456T>C
ENST00000646483.1:c.963T>C	ENSP00000496185.1:n.963T>C
ENST00000380649.7:c.1097T>C	ENSP00000370023.3:p.Ile366Thr
NM_000182.4:c.1097T>C	NP_000173.2:p.Ile366Thr
NM_000182.5:c.1097T>C MANE Select	NP_000173.2:p.Ile366Thr