Canonical Allele Identifier: CA1239701888

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193587C= , CM000664.2:g.26193587C=	GRCh38
NC_000002.11:g.26416456C= , CM000664.1:g.26416456C=	GRCh37
NC_000002.10:g.26269960C=	NCBI36
NG_007121.1:g.56034G=
NG_007121.2:g.56035G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1875G= (HADHA) MANE Select	ENSP00000370023.3:p.Lys625=
ENST00000492433.2:c.1875G= (HADHA)	ENSP00000438039.2:p.Lys625=
ENST00000643057.1:c.*1766G= (HADHA)	ENSP00000493761.1:n.*1766G=
ENST00000643063.1:c.*921G= (HADHA)	ENSP00000495353.1:n.*921G=
ENST00000643233.1:c.*1766G= (HADHA)	ENSP00000493880.1:n.*1766G=
ENST00000644428.1:c.*499G= (HADHA)	ENSP00000495560.1:n.*499G=
ENST00000645274.1:c.1770G= (HADHA)	ENSP00000493996.1:p.Lys590=
ENST00000646031.1:c.1234G= (HADHA)
ENST00000646483.1:c.1741G= (HADHA)	ENSP00000496185.1:n.1741G=
ENST00000380649.7:c.1875G= (HADHA)	ENSP00000370023.3:p.Lys625=
ENST00000492433.1:c.333G= (HADHA)	ENSP00000438039.1:p.Lys111=
NM_000182.4:c.1875G= (HADHA)	NP_000173.2:p.Lys625=
XM_011532567.1:c.1683+6272C= (GAREM2)	XP_011530869.1:n.1683+6272C=
XM_011532567.3:c.1683+6272C= (GAREM2)	XP_011530869.1:n.1683+6272C=
NM_000182.5:c.1875G= (HADHA) MANE Select	NP_000173.2:p.Lys625=