Canonical Allele Identifier: CA531391290
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

dbSNP Id: rs1223908976
gnomAD v2: 2-26414094-T-G
gnomAD v4: 2-26191225-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191225T>G , CM000664.2:g.26191225T>G GRCh38
NC_000002.11:g.26414094T>G , CM000664.1:g.26414094T>G GRCh37
NC_000002.10:g.26267598T>G NCBI36
NG_007121.1:g.58396A>C
NG_007121.2:g.58397A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.*25A>C (HADHA) MANE Select ENSP00000370023.3:n.*25A>C
ENST00000492433.2:c.*25A>C (HADHA) ENSP00000438039.2:n.*25A>C
ENST00000643057.1:c.*2295A>C (HADHA) ENSP00000493761.1:n.*2295A>C
ENST00000643063.1:c.*1363A>C (HADHA) ENSP00000495353.1:n.*1363A>C
ENST00000643233.1:c.*2208A>C (HADHA) ENSP00000493880.1:n.*2208A>C
ENST00000644428.1:c.*941A>C (HADHA) ENSP00000495560.1:n.*941A>C
ENST00000645274.1:c.*25A>C (HADHA) ENSP00000493996.1:n.*25A>C
ENST00000646031.1:c.1676A>C (HADHA)
ENST00000380649.7:c.*25A>C (HADHA) ENSP00000370023.3:n.*25A>C
NM_000182.4:c.*25A>C (HADHA) NP_000173.2:n.*25A>C
XM_011532567.1:c.1683+3910T>G (GAREM2) XP_011530869.1:n.1683+3910T>G
XM_011532567.3:c.1683+3910T>G (GAREM2) XP_011530869.1:n.1683+3910T>G
NM_000182.5:c.*25A>C (HADHA) MANE Select NP_000173.2:n.*25A>C