Canonical Allele Identifier: CA1239701886
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26193584G= , CM000664.2:g.26193584G= GRCh38
NC_000002.11:g.26416453G= , CM000664.1:g.26416453G= GRCh37
NC_000002.10:g.26269957G= NCBI36
NG_007121.1:g.56037C=
NG_007121.2:g.56038C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1878C= (HADHA) MANE Select ENSP00000370023.3:p.Gly626=
ENST00000492433.2:c.1878C= (HADHA) ENSP00000438039.2:p.Gly626=
ENST00000643057.1:c.*1769C= (HADHA) ENSP00000493761.1:n.*1769C=
ENST00000643063.1:c.*924C= (HADHA) ENSP00000495353.1:n.*924C=
ENST00000643233.1:c.*1769C= (HADHA) ENSP00000493880.1:n.*1769C=
ENST00000644428.1:c.*502C= (HADHA) ENSP00000495560.1:n.*502C=
ENST00000645274.1:c.1773C= (HADHA) ENSP00000493996.1:p.Gly591=
ENST00000646031.1:c.1237C= (HADHA)
ENST00000646483.1:c.1744C= (HADHA) ENSP00000496185.1:n.1744C=
ENST00000380649.7:c.1878C= (HADHA) ENSP00000370023.3:p.Gly626=
ENST00000492433.1:c.336C= (HADHA) ENSP00000438039.1:p.Gly112=
NM_000182.4:c.1878C= (HADHA) NP_000173.2:p.Gly626=
XM_011532567.1:c.1683+6269G= (GAREM2) XP_011530869.1:n.1683+6269G=
XM_011532567.3:c.1683+6269G= (GAREM2) XP_011530869.1:n.1683+6269G=
NM_000182.5:c.1878C= (HADHA) MANE Select NP_000173.2:p.Gly626=