Canonical Allele Identifier: CA346128773

Gene: HADHA

Linked Data

• gnomAD v4: 2-26204088-G-C
• MyVariant Identifiers: chr2:g.26426957G>C (hg19) ; chr2:g.26204088G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204088G>C , CM000664.2:g.26204088G>C	GRCh38
NC_000002.11:g.26426957G>C , CM000664.1:g.26426957G>C	GRCh37
NC_000002.10:g.26280461G>C	NCBI36
NG_007121.1:g.45533C>G
NG_007121.2:g.45534C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1194C>G MANE Select	ENSP00000370023.3:p.Asp398Glu
ENST00000492433.2:c.1194C>G	ENSP00000438039.2:p.Asp398Glu
ENST00000643057.1:c.*1085C>G	ENSP00000493761.1:n.*1085C>G
ENST00000643063.1:c.*240C>G	ENSP00000495353.1:n.*240C>G
ENST00000643233.1:c.*1085C>G	ENSP00000493880.1:n.*1085C>G
ENST00000644428.1:c.1194C>G	ENSP00000495560.1:p.Asp398Glu
ENST00000645274.1:c.1089C>G	ENSP00000493996.1:p.Asp363Glu
ENST00000646031.1:c.553C>G
ENST00000646483.1:c.1060C>G	ENSP00000496185.1:n.1060C>G
ENST00000380649.7:c.1194C>G	ENSP00000370023.3:p.Asp398Glu
NM_000182.4:c.1194C>G	NP_000173.2:p.Asp398Glu
NM_000182.5:c.1194C>G MANE Select	NP_000173.2:p.Asp398Glu