Canonical Allele Identifier: CA346120703
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

gnomAD v4: 2-26195124-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26195124G>T , CM000664.2:g.26195124G>T GRCh38
NC_000002.11:g.26417993G>T , CM000664.1:g.26417993G>T GRCh37
NC_000002.10:g.26271497G>T NCBI36
NG_007121.1:g.54497C>A
NG_007121.2:g.54498C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1588C>A (HADHA) MANE Select ENSP00000370023.3:p.Leu530Ile
ENST00000492433.2:c.1588C>A (HADHA) ENSP00000438039.2:p.Leu530Ile
ENST00000643057.1:c.*1479C>A (HADHA) ENSP00000493761.1:n.*1479C>A
ENST00000643063.1:c.*634C>A (HADHA) ENSP00000495353.1:n.*634C>A
ENST00000643233.1:c.*1479C>A (HADHA) ENSP00000493880.1:n.*1479C>A
ENST00000644428.1:c.*212C>A (HADHA) ENSP00000495560.1:n.*212C>A
ENST00000645274.1:c.1483C>A (HADHA) ENSP00000493996.1:p.Leu495Ile
ENST00000646031.1:c.947C>A (HADHA)
ENST00000646483.1:c.1454C>A (HADHA) ENSP00000496185.1:n.1454C>A
ENST00000380649.7:c.1588C>A (HADHA) ENSP00000370023.3:p.Leu530Ile
ENST00000492433.1:c.46C>A (HADHA) ENSP00000438039.1:p.Leu16Ile
NM_000182.4:c.1588C>A (HADHA) NP_000173.2:p.Leu530Ile
XM_011532567.1:c.1684-7109G>T (GAREM2) XP_011530869.1:n.1684-7109G>T
XM_011532567.3:c.1684-7109G>T (GAREM2) XP_011530869.1:n.1684-7109G>T
NM_000182.5:c.1588C>A (HADHA) MANE Select NP_000173.2:p.Leu530Ile