Canonical Allele Identifier: CA16040883
Gene: HADHA HGNC NCBI
HADHB HGNC NCBI

Linked Data

ClinVar Variation Id: 371639
ClinVar RCV Id: RCV000410119
dbSNP Id: rs1057517430
MyVariant Identifiers: chr2:g.26467464T>C (hg19) chr2:g.26244596T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26244596T>C , CM000664.2:g.26244596T>C GRCh38
NC_000002.11:g.26467464T>C , CM000664.1:g.26467464T>C GRCh37
NC_000002.10:g.26320968T>C NCBI36
NG_007121.1:g.5026A>G
NG_007294.1:g.4644T>C
NG_007121.2:g.5026A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.1A>G (HADHA) MANE Select ENSP00000370023.3:p.Met1Val
ENST00000471743.2:n.12A>G (HADHA)
ENST00000492433.2:c.1A>G (HADHA) ENSP00000438039.2:p.Met1Val
ENST00000643057.1:c.1A>G (HADHA) ENSP00000493761.1:p.Met1Val
ENST00000643063.1:c.1A>G (HADHA) ENSP00000495353.1:p.Met1Val
ENST00000643233.1:c.1A>G (HADHA) ENSP00000493880.1:p.Met1Val
ENST00000644428.1:c.1A>G (HADHA) ENSP00000495560.1:p.Met1Val
ENST00000645274.1:c.1A>G (HADHA) ENSP00000493996.1:p.Met1Val
ENST00000646483.1:c.1A>G (HADHA) ENSP00000496185.1:p.Met1Val
ENST00000380649.7:c.1A>G (HADHA) ENSP00000370023.3:p.Met1Val
ENST00000448743.5:c.-9+1327T>C (HADHB) ENSP00000415300.1:n.-9+1327T>C
NM_000182.4:c.1A>G (HADHA) NP_000173.2:p.Met1Val
NM_000182.5:c.1A>G (HADHA) MANE Select NP_000173.2:p.Met1Val
Search 100 bp 5'
Search 100 bp 3'