Canonical Allele Identifier: CA1239700903

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191560T= , CM000664.2:g.26191560T=	GRCh38
NC_000002.11:g.26414429T= , CM000664.1:g.26414429T=	GRCh37
NC_000002.10:g.26267933T=	NCBI36
NG_007121.1:g.58061A=
NG_007121.2:g.58062A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2069A= (HADHA) MANE Select	ENSP00000370023.3:p.Gln690=
ENST00000492433.2:c.2069A= (HADHA)	ENSP00000438039.2:p.Gln690=
ENST00000643057.1:c.*1960A= (HADHA)	ENSP00000493761.1:n.*1960A=
ENST00000643063.1:c.*1115A= (HADHA)	ENSP00000495353.1:n.*1115A=
ENST00000643233.1:c.*1960A= (HADHA)	ENSP00000493880.1:n.*1960A=
ENST00000644428.1:c.*693A= (HADHA)	ENSP00000495560.1:n.*693A=
ENST00000645274.1:c.1964A= (HADHA)	ENSP00000493996.1:p.Gln655=
ENST00000646031.1:c.1428A= (HADHA)
ENST00000646483.1:c.1935A= (HADHA)	ENSP00000496185.1:n.1935A=
ENST00000380649.7:c.2069A= (HADHA)	ENSP00000370023.3:p.Gln690=
ENST00000492433.1:c.527A= (HADHA)	ENSP00000438039.1:p.Gln176=
NM_000182.4:c.2069A= (HADHA)	NP_000173.2:p.Gln690=
XM_011532567.1:c.1683+4245T= (GAREM2)	XP_011530869.1:n.1683+4245T=
XM_011532567.3:c.1683+4245T= (GAREM2)	XP_011530869.1:n.1683+4245T=
NM_000182.5:c.2069A= (HADHA) MANE Select	NP_000173.2:p.Gln690=