Canonical Allele Identifier: CA1239702574

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195186A= , CM000664.2:g.26195186A=	GRCh38
NC_000002.11:g.26418055A= , CM000664.1:g.26418055A=	GRCh37
NC_000002.10:g.26271559A=	NCBI36
NG_007121.1:g.54435T=
NG_007121.2:g.54436T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1526T= (HADHA) MANE Select	ENSP00000370023.3:p.Leu509=
ENST00000492433.2:c.1526T= (HADHA)	ENSP00000438039.2:p.Leu509=
ENST00000643057.1:c.*1417T= (HADHA)	ENSP00000493761.1:n.*1417T=
ENST00000643063.1:c.*572T= (HADHA)	ENSP00000495353.1:n.*572T=
ENST00000643233.1:c.*1417T= (HADHA)	ENSP00000493880.1:n.*1417T=
ENST00000644428.1:c.*150T= (HADHA)	ENSP00000495560.1:n.*150T=
ENST00000645274.1:c.1421T= (HADHA)	ENSP00000493996.1:p.Leu474=
ENST00000646031.1:c.885T= (HADHA)
ENST00000646483.1:c.1392T= (HADHA)	ENSP00000496185.1:n.1392T=
ENST00000380649.7:c.1526T= (HADHA)	ENSP00000370023.3:p.Leu509=
NM_000182.4:c.1526T= (HADHA)	NP_000173.2:p.Leu509=
XM_011532567.1:c.1684-7047A= (GAREM2)	XP_011530869.1:n.1684-7047A=
XM_011532567.3:c.1684-7047A= (GAREM2)	XP_011530869.1:n.1684-7047A=
NM_000182.5:c.1526T= (HADHA) MANE Select	NP_000173.2:p.Leu509=