Canonical Allele Identifier: CA346129147

Gene: HADHA

Linked Data

• dbSNP Id: rs370054250
• gnomAD v3: 2-26204120-T-G
• gnomAD v4: 2-26204120-T-G
• MyVariant Identifiers: chr2:g.26426989T>G (hg19) ; chr2:g.26204120T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204120T>G , CM000664.2:g.26204120T>G	GRCh38
NC_000002.11:g.26426989T>G , CM000664.1:g.26426989T>G	GRCh37
NC_000002.10:g.26280493T>G	NCBI36
NG_007121.1:g.45501A>C
NG_007121.2:g.45502A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1162A>C MANE Select	ENSP00000370023.3:p.Ile388Leu
ENST00000492433.2:c.1162A>C	ENSP00000438039.2:p.Ile388Leu
ENST00000643057.1:c.*1053A>C	ENSP00000493761.1:n.*1053A>C
ENST00000643063.1:c.*208A>C	ENSP00000495353.1:n.*208A>C
ENST00000643233.1:c.*1053A>C	ENSP00000493880.1:n.*1053A>C
ENST00000644428.1:c.1162A>C	ENSP00000495560.1:p.Ile388Leu
ENST00000645274.1:c.1057A>C	ENSP00000493996.1:p.Ile353Leu
ENST00000646031.1:c.521A>C
ENST00000646483.1:c.1028A>C	ENSP00000496185.1:n.1028A>C
ENST00000380649.7:c.1162A>C	ENSP00000370023.3:p.Ile388Leu
NM_000182.4:c.1162A>C	NP_000173.2:p.Ile388Leu
NM_000182.5:c.1162A>C MANE Select	NP_000173.2:p.Ile388Leu