Canonical Allele Identifier: CA1239702552

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195132G= , CM000664.2:g.26195132G=	GRCh38
NC_000002.11:g.26418001G= , CM000664.1:g.26418001G=	GRCh37
NC_000002.10:g.26271505G=	NCBI36
NG_007121.1:g.54489C=
NG_007121.2:g.54490C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1580C= (HADHA) MANE Select	ENSP00000370023.3:p.Ala527=
ENST00000492433.2:c.1580C= (HADHA)	ENSP00000438039.2:p.Ala527=
ENST00000643057.1:c.*1471C= (HADHA)	ENSP00000493761.1:n.*1471C=
ENST00000643063.1:c.*626C= (HADHA)	ENSP00000495353.1:n.*626C=
ENST00000643233.1:c.*1471C= (HADHA)	ENSP00000493880.1:n.*1471C=
ENST00000644428.1:c.*204C= (HADHA)	ENSP00000495560.1:n.*204C=
ENST00000645274.1:c.1475C= (HADHA)	ENSP00000493996.1:p.Ala492=
ENST00000646031.1:c.939C= (HADHA)
ENST00000646483.1:c.1446C= (HADHA)	ENSP00000496185.1:n.1446C=
ENST00000380649.7:c.1580C= (HADHA)	ENSP00000370023.3:p.Ala527=
ENST00000492433.1:c.38C= (HADHA)	ENSP00000438039.1:p.Ala13=
NM_000182.4:c.1580C= (HADHA)	NP_000173.2:p.Ala527=
XM_011532567.1:c.1684-7101G= (GAREM2)	XP_011530869.1:n.1684-7101G=
XM_011532567.3:c.1684-7101G= (GAREM2)	XP_011530869.1:n.1684-7101G=
NM_000182.5:c.1580C= (HADHA) MANE Select	NP_000173.2:p.Ala527=