Canonical Allele Identifier: CA44379872
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2191903
ClinVar RCV Id: RCV002620841
dbSNP Id: rs886467974
gnomAD v2: 2-26417963-T-C
gnomAD v3: 2-26195094-T-C
gnomAD v4: 2-26195094-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26195094T>C , CM000664.2:g.26195094T>C GRCh38
NC_000002.11:g.26417963T>C , CM000664.1:g.26417963T>C GRCh37
NC_000002.10:g.26271467T>C NCBI36
NG_007121.1:g.54527A>G
NG_007121.2:g.54528A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1618A>G (HADHA) MANE Select ENSP00000370023.3:p.Lys540Glu
ENST00000492433.2:c.1618A>G (HADHA) ENSP00000438039.2:p.Lys540Glu
ENST00000643057.1:c.*1509A>G (HADHA) ENSP00000493761.1:n.*1509A>G
ENST00000643063.1:c.*664A>G (HADHA) ENSP00000495353.1:n.*664A>G
ENST00000643233.1:c.*1509A>G (HADHA) ENSP00000493880.1:n.*1509A>G
ENST00000644428.1:c.*242A>G (HADHA) ENSP00000495560.1:n.*242A>G
ENST00000645274.1:c.1513A>G (HADHA) ENSP00000493996.1:p.Lys505Glu
ENST00000646031.1:c.977A>G (HADHA)
ENST00000646483.1:c.1484A>G (HADHA) ENSP00000496185.1:n.1484A>G
ENST00000380649.7:c.1618A>G (HADHA) ENSP00000370023.3:p.Lys540Glu
ENST00000492433.1:c.76A>G (HADHA) ENSP00000438039.1:p.Lys26Glu
NM_000182.4:c.1618A>G (HADHA) NP_000173.2:p.Lys540Glu
XM_011532567.1:c.1684-7139T>C (GAREM2) XP_011530869.1:n.1684-7139T>C
XM_011532567.3:c.1684-7139T>C (GAREM2) XP_011530869.1:n.1684-7139T>C
NM_000182.5:c.1618A>G (HADHA) MANE Select NP_000173.2:p.Lys540Glu