Canonical Allele Identifier: CA44378701
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

dbSNP Id: rs764872153
gnomAD v2: 2-26416560-C-T
gnomAD v3: 2-26193691-C-T
gnomAD v4: 2-26193691-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26193691C>T , CM000664.2:g.26193691C>T GRCh38
NC_000002.11:g.26416560C>T , CM000664.1:g.26416560C>T GRCh37
NC_000002.10:g.26270064C>T NCBI36
NG_007121.1:g.55930G>A
NG_007121.2:g.55931G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1771G>A (HADHA) MANE Select ENSP00000370023.3:p.Val591Ile
ENST00000492433.2:c.1771G>A (HADHA) ENSP00000438039.2:p.Val591Ile
ENST00000643057.1:c.*1662G>A (HADHA) ENSP00000493761.1:n.*1662G>A
ENST00000643063.1:c.*817G>A (HADHA) ENSP00000495353.1:n.*817G>A
ENST00000643233.1:c.*1662G>A (HADHA) ENSP00000493880.1:n.*1662G>A
ENST00000644428.1:c.*395G>A (HADHA) ENSP00000495560.1:n.*395G>A
ENST00000645274.1:c.1666G>A (HADHA) ENSP00000493996.1:p.Val556Ile
ENST00000646031.1:c.1130G>A (HADHA)
ENST00000646483.1:c.1637G>A (HADHA) ENSP00000496185.1:n.1637G>A
ENST00000380649.7:c.1771G>A (HADHA) ENSP00000370023.3:p.Val591Ile
ENST00000492433.1:c.229G>A (HADHA) ENSP00000438039.1:p.Val77Ile
NM_000182.4:c.1771G>A (HADHA) NP_000173.2:p.Val591Ile
XM_011532567.1:c.1683+6376C>T (GAREM2) XP_011530869.1:n.1683+6376C>T
XM_011532567.3:c.1683+6376C>T (GAREM2) XP_011530869.1:n.1683+6376C>T
NM_000182.5:c.1771G>A (HADHA) MANE Select NP_000173.2:p.Val591Ile