Canonical Allele Identifier: CA2658214872
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

gnomAD v4: 2-26191240-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191240T>C , CM000664.2:g.26191240T>C GRCh38
NC_000002.11:g.26414109T>C , CM000664.1:g.26414109T>C GRCh37
NC_000002.10:g.26267613T>C NCBI36
NG_007121.1:g.58381A>G
NG_007121.2:g.58382A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.*10A>G (HADHA) MANE Select ENSP00000370023.3:n.*10A>G
ENST00000492433.2:c.*10A>G (HADHA) ENSP00000438039.2:n.*10A>G
ENST00000643057.1:c.*2280A>G (HADHA) ENSP00000493761.1:n.*2280A>G
ENST00000643063.1:c.*1348A>G (HADHA) ENSP00000495353.1:n.*1348A>G
ENST00000643233.1:c.*2193A>G (HADHA) ENSP00000493880.1:n.*2193A>G
ENST00000644428.1:c.*926A>G (HADHA) ENSP00000495560.1:n.*926A>G
ENST00000645274.1:c.*10A>G (HADHA) ENSP00000493996.1:n.*10A>G
ENST00000646031.1:c.1661A>G (HADHA)
ENST00000380649.7:c.*10A>G (HADHA) ENSP00000370023.3:n.*10A>G
NM_000182.4:c.*10A>G (HADHA) NP_000173.2:n.*10A>G
XM_011532567.1:c.1683+3925T>C (GAREM2) XP_011530869.1:n.1683+3925T>C
XM_011532567.3:c.1683+3925T>C (GAREM2) XP_011530869.1:n.1683+3925T>C
NM_000182.5:c.*10A>G (HADHA) MANE Select NP_000173.2:n.*10A>G