Canonical Allele Identifier: CA1239701934

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193683C= , CM000664.2:g.26193683C=	GRCh38
NC_000002.11:g.26416552C= , CM000664.1:g.26416552C=	GRCh37
NC_000002.10:g.26270056C=	NCBI36
NG_007121.1:g.55938G=
NG_007121.2:g.55939G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1779G= (HADHA) MANE Select	ENSP00000370023.3:p.Val593=
ENST00000492433.2:c.1779G= (HADHA)	ENSP00000438039.2:p.Val593=
ENST00000643057.1:c.*1670G= (HADHA)	ENSP00000493761.1:n.*1670G=
ENST00000643063.1:c.*825G= (HADHA)	ENSP00000495353.1:n.*825G=
ENST00000643233.1:c.*1670G= (HADHA)	ENSP00000493880.1:n.*1670G=
ENST00000644428.1:c.*403G= (HADHA)	ENSP00000495560.1:n.*403G=
ENST00000645274.1:c.1674G= (HADHA)	ENSP00000493996.1:p.Val558=
ENST00000646031.1:c.1138G= (HADHA)
ENST00000646483.1:c.1645G= (HADHA)	ENSP00000496185.1:n.1645G=
ENST00000380649.7:c.1779G= (HADHA)	ENSP00000370023.3:p.Val593=
ENST00000492433.1:c.237G= (HADHA)	ENSP00000438039.1:p.Val79=
NM_000182.4:c.1779G= (HADHA)	NP_000173.2:p.Val593=
XM_011532567.1:c.1683+6368C= (GAREM2)	XP_011530869.1:n.1683+6368C=
XM_011532567.3:c.1683+6368C= (GAREM2)	XP_011530869.1:n.1683+6368C=
NM_000182.5:c.1779G= (HADHA) MANE Select	NP_000173.2:p.Val593=