Canonical Allele Identifier: CA1239701248

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192332T= , CM000664.2:g.26192332T=	GRCh38
NC_000002.11:g.26415201T= , CM000664.1:g.26415201T=	GRCh37
NC_000002.10:g.26268705T=	NCBI36
NG_007121.1:g.57289A=
NG_007121.2:g.57290A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1978A= (HADHA) MANE Select	ENSP00000370023.3:p.Lys660=
ENST00000492433.2:c.1978A= (HADHA)	ENSP00000438039.2:p.Lys660=
ENST00000643057.1:c.*1869A= (HADHA)	ENSP00000493761.1:n.*1869A=
ENST00000643063.1:c.*1024A= (HADHA)	ENSP00000495353.1:n.*1024A=
ENST00000643233.1:c.*1869A= (HADHA)	ENSP00000493880.1:n.*1869A=
ENST00000644428.1:c.*602A= (HADHA)	ENSP00000495560.1:n.*602A=
ENST00000645274.1:c.1873A= (HADHA)	ENSP00000493996.1:p.Lys625=
ENST00000646031.1:c.1337A= (HADHA)
ENST00000646483.1:c.1844A= (HADHA)	ENSP00000496185.1:n.1844A=
ENST00000380649.7:c.1978A= (HADHA)	ENSP00000370023.3:p.Lys660=
ENST00000492433.1:c.436A= (HADHA)	ENSP00000438039.1:p.Lys146=
NM_000182.4:c.1978A= (HADHA)	NP_000173.2:p.Lys660=
XM_011532567.1:c.1683+5017T= (GAREM2)	XP_011530869.1:n.1683+5017T=
XM_011532567.3:c.1683+5017T= (GAREM2)	XP_011530869.1:n.1683+5017T=
NM_000182.5:c.1978A= (HADHA) MANE Select	NP_000173.2:p.Lys660=