Canonical Allele Identifier: CA1239705236
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26201311G= , CM000664.2:g.26201311G= GRCh38
NC_000002.11:g.26424180G= , CM000664.1:g.26424180G= GRCh37
NC_000002.10:g.26277684G= NCBI36
NG_007121.1:g.48310C=
NG_007121.2:g.48311C=

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.1230C= (HADHA) MANE Select ENSP00000370023.3:p.Asp410=
ENST00000492433.2:c.1230C= (HADHA) ENSP00000438039.2:p.Asp410=
ENST00000643057.1:c.*1121C= (HADHA) ENSP00000493761.1:n.*1121C=
ENST00000643063.1:c.*276C= (HADHA) ENSP00000495353.1:n.*276C=
ENST00000643233.1:c.*1121C= (HADHA) ENSP00000493880.1:n.*1121C=
ENST00000644428.1:c.1230C= (HADHA) ENSP00000495560.1:p.Asp410=
ENST00000645274.1:c.1125C= (HADHA) ENSP00000493996.1:p.Asp375=
ENST00000646031.1:c.589C= (HADHA)
ENST00000646483.1:c.1096C= (HADHA) ENSP00000496185.1:n.1096C=
ENST00000380649.7:c.1230C= (HADHA) ENSP00000370023.3:p.Asp410=
NM_000182.4:c.1230C= (HADHA) NP_000173.2:p.Asp410=
XM_011532567.1:c.1684-922G= (GAREM2) XP_011530869.1:n.1684-922G=
XM_011532567.3:c.1684-922G= (GAREM2) XP_011530869.1:n.1684-922G=
NM_000182.5:c.1230C= (HADHA) MANE Select NP_000173.2:p.Asp410=