Canonical Allele Identifier: CA2578677405
Gene: BCKDHB HGNC NCBI

Linked Data

gnomAD v4: 6-80106634-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106634C>A , CM000668.2:g.80106634C>A GRCh38
NC_000006.11:g.80816351C>A , CM000668.1:g.80816351C>A GRCh37
NC_000006.10:g.80873070C>A NCBI36
NG_009775.1:g.5008C>A
NG_009775.2:g.5008C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000056.3:c.-60C>A NP_000047.1:n.-60C>A
NM_183050.2:c.-60C>A NP_898871.1:n.-60C>A
NM_000056.4:c.-60C>A NP_000047.1:n.-60C>A
NM_001318975.1:c.-64C>A NP_001305904.1:n.-64C>A
NM_183050.3:c.-60C>A NP_898871.1:n.-60C>A
NR_134945.1:n.25C>A