Canonical Allele Identifier: CA1239700756
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191276T= , CM000664.2:g.26191276T= GRCh38
NC_000002.11:g.26414145T= , CM000664.1:g.26414145T= GRCh37
NC_000002.10:g.26267649T= NCBI36
NG_007121.1:g.58345A=
NG_007121.2:g.58346A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.2266A= (HADHA) MANE Select ENSP00000370023.3:p.Ser756=
ENST00000492433.2:c.2353A= (HADHA) ENSP00000438039.2:p.Ser785=
ENST00000643057.1:c.*2244A= (HADHA) ENSP00000493761.1:n.*2244A=
ENST00000643063.1:c.*1312A= (HADHA) ENSP00000495353.1:n.*1312A=
ENST00000643233.1:c.*2157A= (HADHA) ENSP00000493880.1:n.*2157A=
ENST00000644428.1:c.*890A= (HADHA) ENSP00000495560.1:n.*890A=
ENST00000645274.1:c.2161A= (HADHA) ENSP00000493996.1:p.Ser721=
ENST00000646031.1:c.1625A= (HADHA)
ENST00000646483.1:c.2132A= (HADHA) ENSP00000496185.1:n.2132A=
ENST00000380649.7:c.2266A= (HADHA) ENSP00000370023.3:p.Ser756=
NM_000182.4:c.2266A= (HADHA) NP_000173.2:p.Ser756=
XM_011532567.1:c.1683+3961T= (GAREM2) XP_011530869.1:n.1683+3961T=
XM_011532567.3:c.1683+3961T= (GAREM2) XP_011530869.1:n.1683+3961T=
NM_000182.5:c.2266A= (HADHA) MANE Select NP_000173.2:p.Ser756=