Canonical Allele Identifier: CA346128673

Gene: HADHA

Linked Data

• MyVariant Identifiers: chr2:g.26426945T>A (hg19) ; chr2:g.26204076T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204076T>A , CM000664.2:g.26204076T>A	GRCh38
NC_000002.11:g.26426945T>A , CM000664.1:g.26426945T>A	GRCh37
NC_000002.10:g.26280449T>A	NCBI36
NG_007121.1:g.45545A>T
NG_007121.2:g.45546A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1206A>T MANE Select	ENSP00000370023.3:p.Gln402His
ENST00000492433.2:c.1206A>T	ENSP00000438039.2:p.Gln402His
ENST00000643057.1:c.*1097A>T	ENSP00000493761.1:n.*1097A>T
ENST00000643063.1:c.*252A>T	ENSP00000495353.1:n.*252A>T
ENST00000643233.1:c.*1097A>T	ENSP00000493880.1:n.*1097A>T
ENST00000644428.1:c.1206A>T	ENSP00000495560.1:p.Gln402His
ENST00000645274.1:c.1101A>T	ENSP00000493996.1:p.Gln367His
ENST00000646031.1:c.565A>T
ENST00000646483.1:c.1072A>T	ENSP00000496185.1:n.1072A>T
ENST00000380649.7:c.1206A>T	ENSP00000370023.3:p.Gln402His
NM_000182.4:c.1206A>T	NP_000173.2:p.Gln402His
NM_000182.5:c.1206A>T MANE Select	NP_000173.2:p.Gln402His