Canonical Allele Identifier: CA346112478
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26191488A>C , CM000664.2:g.26191488A>C GRCh38
NC_000002.11:g.26414357A>C , CM000664.1:g.26414357A>C GRCh37
NC_000002.10:g.26267861A>C NCBI36
NG_007121.1:g.58133T>G
NG_007121.2:g.58134T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.2141T>G (HADHA) MANE Select ENSP00000370023.3:p.Leu714Arg
ENST00000492433.2:c.2141T>G (HADHA) ENSP00000438039.2:p.Leu714Arg
ENST00000643057.1:c.*2032T>G (HADHA) ENSP00000493761.1:n.*2032T>G
ENST00000643063.1:c.*1187T>G (HADHA) ENSP00000495353.1:n.*1187T>G
ENST00000643233.1:c.*2032T>G (HADHA) ENSP00000493880.1:n.*2032T>G
ENST00000644428.1:c.*765T>G (HADHA) ENSP00000495560.1:n.*765T>G
ENST00000645274.1:c.2036T>G (HADHA) ENSP00000493996.1:p.Leu679Arg
ENST00000646031.1:c.1500T>G (HADHA)
ENST00000646483.1:c.2007T>G (HADHA) ENSP00000496185.1:n.2007T>G
ENST00000380649.7:c.2141T>G (HADHA) ENSP00000370023.3:p.Leu714Arg
ENST00000492433.1:c.599T>G (HADHA) ENSP00000438039.1:p.Leu200Arg
NM_000182.4:c.2141T>G (HADHA) NP_000173.2:p.Leu714Arg
XM_011532567.1:c.1683+4173A>C (GAREM2) XP_011530869.1:n.1683+4173A>C
XM_011532567.3:c.1683+4173A>C (GAREM2) XP_011530869.1:n.1683+4173A>C
NM_000182.5:c.2141T>G (HADHA) MANE Select NP_000173.2:p.Leu714Arg