Canonical Allele Identifier: CA1239701260
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26192355A= , CM000664.2:g.26192355A= GRCh38
NC_000002.11:g.26415224A= , CM000664.1:g.26415224A= GRCh37
NC_000002.10:g.26268728A= NCBI36
NG_007121.1:g.57266T=
NG_007121.2:g.57267T=

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.1955T= (HADHA) MANE Select ENSP00000370023.3:p.Met652=
ENST00000492433.2:c.1955T= (HADHA) ENSP00000438039.2:p.Met652=
ENST00000643057.1:c.*1846T= (HADHA) ENSP00000493761.1:n.*1846T=
ENST00000643063.1:c.*1001T= (HADHA) ENSP00000495353.1:n.*1001T=
ENST00000643233.1:c.*1846T= (HADHA) ENSP00000493880.1:n.*1846T=
ENST00000644428.1:c.*579T= (HADHA) ENSP00000495560.1:n.*579T=
ENST00000645274.1:c.1850T= (HADHA) ENSP00000493996.1:p.Met617=
ENST00000646031.1:c.1314T= (HADHA)
ENST00000646483.1:c.1821T= (HADHA) ENSP00000496185.1:n.1821T=
ENST00000380649.7:c.1955T= (HADHA) ENSP00000370023.3:p.Met652=
ENST00000492433.1:c.413T= (HADHA) ENSP00000438039.1:p.Met138=
NM_000182.4:c.1955T= (HADHA) NP_000173.2:p.Met652=
XM_011532567.1:c.1683+5040A= (GAREM2) XP_011530869.1:n.1683+5040A=
XM_011532567.3:c.1683+5040A= (GAREM2) XP_011530869.1:n.1683+5040A=
NM_000182.5:c.1955T= (HADHA) MANE Select NP_000173.2:p.Met652=