Canonical Allele Identifier: CA16040881
Gene: HADHA HGNC NCBI

Linked Data

ClinVar Variation Id: 370347
ClinVar RCV Id: RCV000824013
dbSNP Id: rs1057516417
MyVariant Identifiers: chr2:g.26457084C>T (hg19) chr2:g.26234216C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26234216C>T , CM000664.2:g.26234216C>T GRCh38
NC_000002.11:g.26457084C>T , CM000664.1:g.26457084C>T GRCh37
NC_000002.10:g.26310588C>T NCBI36
NG_007121.1:g.15406G>A
NG_007121.2:g.15406G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.453+1G>A MANE Select ENSP00000370023.3:n.453+1G>A
ENST00000471743.2:n.330+1G>A
ENST00000492433.2:c.453+1G>A ENSP00000438039.2:n.453+1G>A
ENST00000643057.1:c.*344+1G>A ENSP00000493761.1:n.*344+1G>A
ENST00000643063.1:c.453+1G>A ENSP00000495353.1:n.453+1G>A
ENST00000643233.1:c.*344+1G>A ENSP00000493880.1:n.*344+1G>A
ENST00000644428.1:c.453+1G>A ENSP00000495560.1:n.453+1G>A
ENST00000645274.1:c.453+1G>A ENSP00000493996.1:n.453+1G>A
ENST00000646483.1:c.319+1G>A ENSP00000496185.1:n.319+1G>A
ENST00000380649.7:c.453+1G>A ENSP00000370023.3:n.453+1G>A
ENST00000461025.1:n.353+1G>A
NM_000182.4:c.453+1G>A NP_000173.2:n.453+1G>A
NM_000182.5:c.453+1G>A MANE Select NP_000173.2:n.453+1G>A
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