Canonical Allele Identifier: CA2679496933
Gene: BCKDHB HGNC NCBI

Linked Data

gnomAD v4: 6-80106641-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106641C>A , CM000668.2:g.80106641C>A GRCh38
NC_000006.11:g.80816358C>A , CM000668.1:g.80816358C>A GRCh37
NC_000006.10:g.80873077C>A NCBI36
NG_009775.1:g.5015C>A
NG_009775.2:g.5015C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000056.3:c.-53C>A NP_000047.1:n.-53C>A
NM_183050.2:c.-53C>A NP_898871.1:n.-53C>A
NM_000056.4:c.-53C>A NP_000047.1:n.-53C>A
NM_001318975.1:c.-57C>A NP_001305904.1:n.-57C>A
NM_183050.3:c.-53C>A NP_898871.1:n.-53C>A
NR_134945.1:n.32C>A
Search 100 bp 5'
Search 100 bp 3'