Canonical Allele Identifier: CA1239702582

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195199T= , CM000664.2:g.26195199T=	GRCh38
NC_000002.11:g.26418068T= , CM000664.1:g.26418068T=	GRCh37
NC_000002.10:g.26271572T=	NCBI36
NG_007121.1:g.54422A=
NG_007121.2:g.54423A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1513A= (HADHA) MANE Select	ENSP00000370023.3:p.Lys505=
ENST00000492433.2:c.1513A= (HADHA)	ENSP00000438039.2:p.Lys505=
ENST00000643057.1:c.*1404A= (HADHA)	ENSP00000493761.1:n.*1404A=
ENST00000643063.1:c.*559A= (HADHA)	ENSP00000495353.1:n.*559A=
ENST00000643233.1:c.*1404A= (HADHA)	ENSP00000493880.1:n.*1404A=
ENST00000644428.1:c.*137A= (HADHA)	ENSP00000495560.1:n.*137A=
ENST00000645274.1:c.1408A= (HADHA)	ENSP00000493996.1:p.Lys470=
ENST00000646031.1:c.872A= (HADHA)
ENST00000646483.1:c.1379A= (HADHA)	ENSP00000496185.1:n.1379A=
ENST00000380649.7:c.1513A= (HADHA)	ENSP00000370023.3:p.Lys505=
NM_000182.4:c.1513A= (HADHA)	NP_000173.2:p.Lys505=
XM_011532567.1:c.1684-7034T= (GAREM2)	XP_011530869.1:n.1684-7034T=
XM_011532567.3:c.1684-7034T= (GAREM2)	XP_011530869.1:n.1684-7034T=
NM_000182.5:c.1513A= (HADHA) MANE Select	NP_000173.2:p.Lys505=