Canonical Allele Identifier: CA2679496927
Gene: BCKDHB HGNC NCBI

Linked Data

gnomAD v4: 6-80106636-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106636G>C , CM000668.2:g.80106636G>C GRCh38
NC_000006.11:g.80816353G>C , CM000668.1:g.80816353G>C GRCh37
NC_000006.10:g.80873072G>C NCBI36
NG_009775.1:g.5010G>C
NG_009775.2:g.5010G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000056.3:c.-58G>C NP_000047.1:n.-58G>C
NM_183050.2:c.-58G>C NP_898871.1:n.-58G>C
NM_000056.4:c.-58G>C NP_000047.1:n.-58G>C
NM_001318975.1:c.-62G>C NP_001305904.1:n.-62G>C
NM_183050.3:c.-58G>C NP_898871.1:n.-58G>C
NR_134945.1:n.27G>C
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