Canonical Allele Identifier: CA1239702549

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195123A= , CM000664.2:g.26195123A=	GRCh38
NC_000002.11:g.26417992A= , CM000664.1:g.26417992A=	GRCh37
NC_000002.10:g.26271496A=	NCBI36
NG_007121.1:g.54498T=
NG_007121.2:g.54499T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1589T= (HADHA) MANE Select	ENSP00000370023.3:p.Leu530=
ENST00000492433.2:c.1589T= (HADHA)	ENSP00000438039.2:p.Leu530=
ENST00000643057.1:c.*1480T= (HADHA)	ENSP00000493761.1:n.*1480T=
ENST00000643063.1:c.*635T= (HADHA)	ENSP00000495353.1:n.*635T=
ENST00000643233.1:c.*1480T= (HADHA)	ENSP00000493880.1:n.*1480T=
ENST00000644428.1:c.*213T= (HADHA)	ENSP00000495560.1:n.*213T=
ENST00000645274.1:c.1484T= (HADHA)	ENSP00000493996.1:p.Leu495=
ENST00000646031.1:c.948T= (HADHA)
ENST00000646483.1:c.1455T= (HADHA)	ENSP00000496185.1:n.1455T=
ENST00000380649.7:c.1589T= (HADHA)	ENSP00000370023.3:p.Leu530=
ENST00000492433.1:c.47T= (HADHA)	ENSP00000438039.1:p.Leu16=
NM_000182.4:c.1589T= (HADHA)	NP_000173.2:p.Leu530=
XM_011532567.1:c.1684-7110A= (GAREM2)	XP_011530869.1:n.1684-7110A=
XM_011532567.3:c.1684-7110A= (GAREM2)	XP_011530869.1:n.1684-7110A=
NM_000182.5:c.1589T= (HADHA) MANE Select	NP_000173.2:p.Leu530=