Canonical Allele Identifier: CA1239700881

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191515A= , CM000664.2:g.26191515A=	GRCh38
NC_000002.11:g.26414384A= , CM000664.1:g.26414384A=	GRCh37
NC_000002.10:g.26267888A=	NCBI36
NG_007121.1:g.58106T=
NG_007121.2:g.58107T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2114T= (HADHA) MANE Select	ENSP00000370023.3:p.Val705=
ENST00000492433.2:c.2114T= (HADHA)	ENSP00000438039.2:p.Val705=
ENST00000643057.1:c.*2005T= (HADHA)	ENSP00000493761.1:n.*2005T=
ENST00000643063.1:c.*1160T= (HADHA)	ENSP00000495353.1:n.*1160T=
ENST00000643233.1:c.*2005T= (HADHA)	ENSP00000493880.1:n.*2005T=
ENST00000644428.1:c.*738T= (HADHA)	ENSP00000495560.1:n.*738T=
ENST00000645274.1:c.2009T= (HADHA)	ENSP00000493996.1:p.Val670=
ENST00000646031.1:c.1473T= (HADHA)
ENST00000646483.1:c.1980T= (HADHA)	ENSP00000496185.1:n.1980T=
ENST00000380649.7:c.2114T= (HADHA)	ENSP00000370023.3:p.Val705=
ENST00000492433.1:c.572T= (HADHA)	ENSP00000438039.1:p.Val191=
NM_000182.4:c.2114T= (HADHA)	NP_000173.2:p.Val705=
XM_011532567.1:c.1683+4200A= (GAREM2)	XP_011530869.1:n.1683+4200A=
XM_011532567.3:c.1683+4200A= (GAREM2)	XP_011530869.1:n.1683+4200A=
NM_000182.5:c.2114T= (HADHA) MANE Select	NP_000173.2:p.Val705=