Canonical Allele Identifier: CA1239700678

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191130A= , CM000664.2:g.26191130A=	GRCh38
NC_000002.11:g.26413999A= , CM000664.1:g.26413999A=	GRCh37
NC_000002.10:g.26267503A=	NCBI36
NG_007121.1:g.58491T=
NG_007121.2:g.58492T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*120T= (HADHA) MANE Select	ENSP00000370023.3:n.*120T=
ENST00000492433.2:c.*120T= (HADHA)	ENSP00000438039.2:n.*120T=
ENST00000643057.1:c.*2390T= (HADHA)	ENSP00000493761.1:n.*2390T=
ENST00000643063.1:c.*1458T= (HADHA)	ENSP00000495353.1:n.*1458T=
ENST00000643233.1:c.*2303T= (HADHA)	ENSP00000493880.1:n.*2303T=
ENST00000644428.1:c.*1036T= (HADHA)	ENSP00000495560.1:n.*1036T=
ENST00000645274.1:c.*120T= (HADHA)	ENSP00000493996.1:n.*120T=
ENST00000646031.1:c.1771T= (HADHA)
ENST00000380649.7:c.*120T= (HADHA)	ENSP00000370023.3:n.*120T=
NM_000182.4:c.*120T= (HADHA)	NP_000173.2:n.*120T=
XM_011532567.1:c.1683+3815A= (GAREM2)	XP_011530869.1:n.1683+3815A=
XM_011532567.3:c.1683+3815A= (GAREM2)	XP_011530869.1:n.1683+3815A=
NM_000182.5:c.*120T= (HADHA) MANE Select	NP_000173.2:n.*120T=