Canonical Allele Identifier: CA1239701280
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26192387C= , CM000664.2:g.26192387C= GRCh38
NC_000002.11:g.26415256C= , CM000664.1:g.26415256C= GRCh37
NC_000002.10:g.26268760C= NCBI36
NG_007121.1:g.57234G=
NG_007121.2:g.57235G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1923G= (HADHA) MANE Select ENSP00000370023.3:p.Glu641=
ENST00000492433.2:c.1923G= (HADHA) ENSP00000438039.2:p.Glu641=
ENST00000643057.1:c.*1814G= (HADHA) ENSP00000493761.1:n.*1814G=
ENST00000643063.1:c.*969G= (HADHA) ENSP00000495353.1:n.*969G=
ENST00000643233.1:c.*1814G= (HADHA) ENSP00000493880.1:n.*1814G=
ENST00000644428.1:c.*547G= (HADHA) ENSP00000495560.1:n.*547G=
ENST00000645274.1:c.1818G= (HADHA) ENSP00000493996.1:p.Glu606=
ENST00000646031.1:c.1282G= (HADHA)
ENST00000646483.1:c.1789G= (HADHA) ENSP00000496185.1:n.1789G=
ENST00000380649.7:c.1923G= (HADHA) ENSP00000370023.3:p.Glu641=
ENST00000492433.1:c.381G= (HADHA) ENSP00000438039.1:p.Glu127=
NM_000182.4:c.1923G= (HADHA) NP_000173.2:p.Glu641=
XM_011532567.1:c.1683+5072C= (GAREM2) XP_011530869.1:n.1683+5072C=
XM_011532567.3:c.1683+5072C= (GAREM2) XP_011530869.1:n.1683+5072C=
NM_000182.5:c.1923G= (HADHA) MANE Select NP_000173.2:p.Glu641=