Canonical Allele Identifier: CA2679496918
Gene: BCKDHB HGNC NCBI

Linked Data

gnomAD v4: 6-80106628-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106628G>T , CM000668.2:g.80106628G>T GRCh38
NC_000006.11:g.80816345G>T , CM000668.1:g.80816345G>T GRCh37
NC_000006.10:g.80873064G>T NCBI36
NG_009775.1:g.5002G>T
NG_009775.2:g.5002G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000056.3:c.-66G>T NP_000047.1:n.-66G>T
NM_183050.2:c.-66G>T NP_898871.1:n.-66G>T
NM_000056.4:c.-66G>T NP_000047.1:n.-66G>T
NM_001318975.1:c.-70G>T NP_001305904.1:n.-70G>T
NM_183050.3:c.-66G>T NP_898871.1:n.-66G>T
NR_134945.1:n.19G>T