Canonical Allele Identifier: CA1239701256
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26192349C= , CM000664.2:g.26192349C= GRCh38
NC_000002.11:g.26415218C= , CM000664.1:g.26415218C= GRCh37
NC_000002.10:g.26268722C= NCBI36
NG_007121.1:g.57272G=
NG_007121.2:g.57273G=

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.1961G= (HADHA) MANE Select ENSP00000370023.3:p.Ser654=
ENST00000492433.2:c.1961G= (HADHA) ENSP00000438039.2:p.Ser654=
ENST00000643057.1:c.*1852G= (HADHA) ENSP00000493761.1:n.*1852G=
ENST00000643063.1:c.*1007G= (HADHA) ENSP00000495353.1:n.*1007G=
ENST00000643233.1:c.*1852G= (HADHA) ENSP00000493880.1:n.*1852G=
ENST00000644428.1:c.*585G= (HADHA) ENSP00000495560.1:n.*585G=
ENST00000645274.1:c.1856G= (HADHA) ENSP00000493996.1:p.Ser619=
ENST00000646031.1:c.1320G= (HADHA)
ENST00000646483.1:c.1827G= (HADHA) ENSP00000496185.1:n.1827G=
ENST00000380649.7:c.1961G= (HADHA) ENSP00000370023.3:p.Ser654=
ENST00000492433.1:c.419G= (HADHA) ENSP00000438039.1:p.Ser140=
NM_000182.4:c.1961G= (HADHA) NP_000173.2:p.Ser654=
XM_011532567.1:c.1683+5034C= (GAREM2) XP_011530869.1:n.1683+5034C=
XM_011532567.3:c.1683+5034C= (GAREM2) XP_011530869.1:n.1683+5034C=
NM_000182.5:c.1961G= (HADHA) MANE Select NP_000173.2:p.Ser654=