Canonical Allele Identifier: CA2679496906
Gene: BCKDHB HGNC NCBI

Linked Data

gnomAD v4: 6-80106612-T-G

Genomic Alleles

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

Transcript Alleles

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