Canonical Allele Identifier: CA1239705257
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26201368G= , CM000664.2:g.26201368G= GRCh38
NC_000002.11:g.26424237G= , CM000664.1:g.26424237G= GRCh37
NC_000002.10:g.26277741G= NCBI36
NG_007121.1:g.48253C=
NG_007121.2:g.48254C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1221-48C= (HADHA) MANE Select ENSP00000370023.3:n.1221-48C=
ENST00000492433.2:c.1221-48C= (HADHA) ENSP00000438039.2:n.1221-48C=
ENST00000643057.1:c.*1112-48C= (HADHA) ENSP00000493761.1:n.*1112-48C=
ENST00000643063.1:c.*267-48C= (HADHA) ENSP00000495353.1:n.*267-48C=
ENST00000643233.1:c.*1112-48C= (HADHA) ENSP00000493880.1:n.*1112-48C=
ENST00000644428.1:c.1221-48C= (HADHA) ENSP00000495560.1:n.1221-48C=
ENST00000645274.1:c.1116-48C= (HADHA) ENSP00000493996.1:n.1116-48C=
ENST00000646031.1:c.580-48C= (HADHA)
ENST00000646483.1:c.1087-48C= (HADHA) ENSP00000496185.1:n.1087-48C=
ENST00000380649.7:c.1221-48C= (HADHA) ENSP00000370023.3:n.1221-48C=
NM_000182.4:c.1221-48C= (HADHA) NP_000173.2:n.1221-48C=
XM_011532567.1:c.1684-865G= (GAREM2) XP_011530869.1:n.1684-865G=
XM_011532567.3:c.1684-865G= (GAREM2) XP_011530869.1:n.1684-865G=
NM_000182.5:c.1221-48C= (HADHA) MANE Select NP_000173.2:n.1221-48C=