Canonical Allele Identifier: CA2679496915
Gene: BCKDHB HGNC NCBI

Linked Data

gnomAD v4: 6-80106623-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106623C>G , CM000668.2:g.80106623C>G GRCh38
NC_000006.11:g.80816340C>G , CM000668.1:g.80816340C>G GRCh37
NC_000006.10:g.80873059C>G NCBI36
NG_009775.1:g.4997C>G
NG_009775.2:g.4997C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000056.4:c.-71C>G NP_000047.1:n.-71C>G
NM_001318975.1:c.-75C>G NP_001305904.1:n.-75C>G
NM_183050.3:c.-71C>G NP_898871.1:n.-71C>G
NR_134945.1:n.14C>G