Canonical Allele Identifier: CA1239701272

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192379T= , CM000664.2:g.26192379T=	GRCh38
NC_000002.11:g.26415248T= , CM000664.1:g.26415248T=	GRCh37
NC_000002.10:g.26268752T=	NCBI36
NG_007121.1:g.57242A=
NG_007121.2:g.57243A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1931A= (HADHA) MANE Select	ENSP00000370023.3:p.Lys644=
ENST00000492433.2:c.1931A= (HADHA)	ENSP00000438039.2:p.Lys644=
ENST00000643057.1:c.*1822A= (HADHA)	ENSP00000493761.1:n.*1822A=
ENST00000643063.1:c.*977A= (HADHA)	ENSP00000495353.1:n.*977A=
ENST00000643233.1:c.*1822A= (HADHA)	ENSP00000493880.1:n.*1822A=
ENST00000644428.1:c.*555A= (HADHA)	ENSP00000495560.1:n.*555A=
ENST00000645274.1:c.1826A= (HADHA)	ENSP00000493996.1:p.Lys609=
ENST00000646031.1:c.1290A= (HADHA)
ENST00000646483.1:c.1797A= (HADHA)	ENSP00000496185.1:n.1797A=
ENST00000380649.7:c.1931A= (HADHA)	ENSP00000370023.3:p.Lys644=
ENST00000492433.1:c.389A= (HADHA)	ENSP00000438039.1:p.Lys130=
NM_000182.4:c.1931A= (HADHA)	NP_000173.2:p.Lys644=
XM_011532567.1:c.1683+5064T= (GAREM2)	XP_011530869.1:n.1683+5064T=
XM_011532567.3:c.1683+5064T= (GAREM2)	XP_011530869.1:n.1683+5064T=
NM_000182.5:c.1931A= (HADHA) MANE Select	NP_000173.2:p.Lys644=