Canonical Allele Identifier: CA2679496922
Gene: BCKDHB HGNC NCBI

Linked Data

gnomAD v4: 6-80106631-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106631G>A , CM000668.2:g.80106631G>A GRCh38
NC_000006.11:g.80816348G>A , CM000668.1:g.80816348G>A GRCh37
NC_000006.10:g.80873067G>A NCBI36
NG_009775.1:g.5005G>A
NG_009775.2:g.5005G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000056.3:c.-63G>A NP_000047.1:n.-63G>A
NM_183050.2:c.-63G>A NP_898871.1:n.-63G>A
NM_000056.4:c.-63G>A NP_000047.1:n.-63G>A
NM_001318975.1:c.-67G>A NP_001305904.1:n.-67G>A
NM_183050.3:c.-63G>A NP_898871.1:n.-63G>A
NR_134945.1:n.22G>A