Canonical Allele Identifier: CA1559760

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26214491C>T , CM000664.2:g.26214491C>T	GRCh38
NC_000002.11:g.26437360C>T , CM000664.1:g.26437360C>T	GRCh37
NC_000002.10:g.26290864C>T	NCBI36
NG_007121.1:g.35130G>A
NG_007121.2:g.35131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.870G>A MANE Select	ENSP00000370023.3:p.Val290=
ENST00000471743.2:n.747G>A
ENST00000492433.2:c.870G>A	ENSP00000438039.2:p.Val290=
ENST00000643057.1:c.*761G>A	ENSP00000493761.1:n.*761G>A
ENST00000643063.1:c.870G>A	ENSP00000495353.1:p.Val290=
ENST00000643233.1:c.*761G>A	ENSP00000493880.1:n.*761G>A
ENST00000644428.1:c.870G>A	ENSP00000495560.1:p.Val290=
ENST00000645274.1:c.765G>A	ENSP00000493996.1:p.Val255=
ENST00000646483.1:c.736G>A	ENSP00000496185.1:n.736G>A
ENST00000380649.7:c.870G>A	ENSP00000370023.3:p.Val290=
ENST00000471743.1:n.112G>A
NM_000182.4:c.870G>A	NP_000173.2:p.Val290=
NM_000182.5:c.870G>A MANE Select	NP_000173.2:p.Val290=