Canonical Allele Identifier: CA1239701148

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192118C= , CM000664.2:g.26192118C=	GRCh38
NC_000002.11:g.26414987C= , CM000664.1:g.26414987C=	GRCh37
NC_000002.10:g.26268491C=	NCBI36
NG_007121.1:g.57503G=
NG_007121.2:g.57504G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2000+192G= (HADHA) MANE Select	ENSP00000370023.3:n.2000+192G=
ENST00000492433.2:c.2000+192G= (HADHA)	ENSP00000438039.2:n.2000+192G=
ENST00000643057.1:c.*1891+192G= (HADHA)	ENSP00000493761.1:n.*1891+192G=
ENST00000643063.1:c.*1046+192G= (HADHA)	ENSP00000495353.1:n.*1046+192G=
ENST00000643233.1:c.*1891+192G= (HADHA)	ENSP00000493880.1:n.*1891+192G=
ENST00000644428.1:c.*624+192G= (HADHA)	ENSP00000495560.1:n.*624+192G=
ENST00000645274.1:c.1895+192G= (HADHA)	ENSP00000493996.1:n.1895+192G=
ENST00000646031.1:c.1359+192G= (HADHA)
ENST00000646483.1:c.1866+192G= (HADHA)	ENSP00000496185.1:n.1866+192G=
ENST00000380649.7:c.2000+192G= (HADHA)	ENSP00000370023.3:n.2000+192G=
ENST00000492433.1:c.458+192G= (HADHA)	ENSP00000438039.1:n.458+192G=
NM_000182.4:c.2000+192G= (HADHA)	NP_000173.2:n.2000+192G=
XM_011532567.1:c.1683+4803C= (GAREM2)	XP_011530869.1:n.1683+4803C=
XM_011532567.3:c.1683+4803C= (GAREM2)	XP_011530869.1:n.1683+4803C=
NM_000182.5:c.2000+192G= (HADHA) MANE Select	NP_000173.2:n.2000+192G=