Canonical Allele Identifier: CA2679496905
Gene: BCKDHB HGNC NCBI

Linked Data

gnomAD v4: 6-80106612-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106612T>C , CM000668.2:g.80106612T>C GRCh38
NC_000006.11:g.80816329T>C , CM000668.1:g.80816329T>C GRCh37
NC_000006.10:g.80873048T>C NCBI36
NG_009775.1:g.4986T>C
NG_009775.2:g.4986T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000056.4:c.-82T>C NP_000047.1:n.-82T>C
NM_001318975.1:c.-86T>C NP_001305904.1:n.-86T>C
NM_183050.3:c.-82T>C NP_898871.1:n.-82T>C
NR_134945.1:n.3T>C