Canonical Allele Identifier: CA1239702578
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26195191C= , CM000664.2:g.26195191C= GRCh38
NC_000002.11:g.26418060C= , CM000664.1:g.26418060C= GRCh37
NC_000002.10:g.26271564C= NCBI36
NG_007121.1:g.54430G=
NG_007121.2:g.54431G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1521G= (HADHA) MANE Select ENSP00000370023.3:p.Gln507=
ENST00000492433.2:c.1521G= (HADHA) ENSP00000438039.2:p.Gln507=
ENST00000643057.1:c.*1412G= (HADHA) ENSP00000493761.1:n.*1412G=
ENST00000643063.1:c.*567G= (HADHA) ENSP00000495353.1:n.*567G=
ENST00000643233.1:c.*1412G= (HADHA) ENSP00000493880.1:n.*1412G=
ENST00000644428.1:c.*145G= (HADHA) ENSP00000495560.1:n.*145G=
ENST00000645274.1:c.1416G= (HADHA) ENSP00000493996.1:p.Gln472=
ENST00000646031.1:c.880G= (HADHA)
ENST00000646483.1:c.1387G= (HADHA) ENSP00000496185.1:n.1387G=
ENST00000380649.7:c.1521G= (HADHA) ENSP00000370023.3:p.Gln507=
NM_000182.4:c.1521G= (HADHA) NP_000173.2:p.Gln507=
XM_011532567.1:c.1684-7042C= (GAREM2) XP_011530869.1:n.1684-7042C=
XM_011532567.3:c.1684-7042C= (GAREM2) XP_011530869.1:n.1684-7042C=
NM_000182.5:c.1521G= (HADHA) MANE Select NP_000173.2:p.Gln507=