Canonical Allele Identifier: CA346129441

Gene: HADHA

Linked Data

• MyVariant Identifiers: chr2:g.26427010C>G (hg19) ; chr2:g.26204141C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204141C>G , CM000664.2:g.26204141C>G	GRCh38
NC_000002.11:g.26427010C>G , CM000664.1:g.26427010C>G	GRCh37
NC_000002.10:g.26280514C>G	NCBI36
NG_007121.1:g.45480G>C
NG_007121.2:g.45481G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1141G>C MANE Select	ENSP00000370023.3:p.Val381Leu
ENST00000492433.2:c.1141G>C	ENSP00000438039.2:p.Val381Leu
ENST00000643057.1:c.*1032G>C	ENSP00000493761.1:n.*1032G>C
ENST00000643063.1:c.*187G>C	ENSP00000495353.1:n.*187G>C
ENST00000643233.1:c.*1032G>C	ENSP00000493880.1:n.*1032G>C
ENST00000644428.1:c.1141G>C	ENSP00000495560.1:p.Val381Leu
ENST00000645274.1:c.1036G>C	ENSP00000493996.1:p.Val346Leu
ENST00000646031.1:c.500G>C
ENST00000646483.1:c.1007G>C	ENSP00000496185.1:n.1007G>C
ENST00000380649.7:c.1141G>C	ENSP00000370023.3:p.Val381Leu
NM_000182.4:c.1141G>C	NP_000173.2:p.Val381Leu
NM_000182.5:c.1141G>C MANE Select	NP_000173.2:p.Val381Leu