Canonical Allele Identifier: CA2679496934
Gene: BCKDHB HGNC NCBI

Linked Data

gnomAD v4: 6-80106642-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106642C>A , CM000668.2:g.80106642C>A GRCh38
NC_000006.11:g.80816359C>A , CM000668.1:g.80816359C>A GRCh37
NC_000006.10:g.80873078C>A NCBI36
NG_009775.1:g.5016C>A
NG_009775.2:g.5016C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000056.3:c.-52C>A NP_000047.1:n.-52C>A
NM_183050.2:c.-52C>A NP_898871.1:n.-52C>A
NM_000056.4:c.-52C>A NP_000047.1:n.-52C>A
NM_001318975.1:c.-56C>A NP_001305904.1:n.-56C>A
NM_183050.3:c.-52C>A NP_898871.1:n.-52C>A
NR_134945.1:n.33C>A
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