Canonical Allele Identifier: CA346129623

Gene: HADHA

Linked Data

• MyVariant Identifiers: chr2:g.26427024A>C (hg19) ; chr2:g.26204155A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204155A>C , CM000664.2:g.26204155A>C	GRCh38
NC_000002.11:g.26427024A>C , CM000664.1:g.26427024A>C	GRCh37
NC_000002.10:g.26280528A>C	NCBI36
NG_007121.1:g.45466T>G
NG_007121.2:g.45467T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1127T>G MANE Select	ENSP00000370023.3:p.Ile376Ser
ENST00000492433.2:c.1127T>G	ENSP00000438039.2:p.Ile376Ser
ENST00000643057.1:c.*1018T>G	ENSP00000493761.1:n.*1018T>G
ENST00000643063.1:c.*173T>G	ENSP00000495353.1:n.*173T>G
ENST00000643233.1:c.*1018T>G	ENSP00000493880.1:n.*1018T>G
ENST00000644428.1:c.1127T>G	ENSP00000495560.1:p.Ile376Ser
ENST00000645274.1:c.1022T>G	ENSP00000493996.1:p.Ile341Ser
ENST00000646031.1:c.486T>G
ENST00000646483.1:c.993T>G	ENSP00000496185.1:n.993T>G
ENST00000380649.7:c.1127T>G	ENSP00000370023.3:p.Ile376Ser
NM_000182.4:c.1127T>G	NP_000173.2:p.Ile376Ser
NM_000182.5:c.1127T>G MANE Select	NP_000173.2:p.Ile376Ser