Canonical Allele Identifier: CA2679496928
Gene: BCKDHB HGNC NCBI

Linked Data

gnomAD v4: 6-80106637-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106637C>G , CM000668.2:g.80106637C>G GRCh38
NC_000006.11:g.80816354C>G , CM000668.1:g.80816354C>G GRCh37
NC_000006.10:g.80873073C>G NCBI36
NG_009775.1:g.5011C>G
NG_009775.2:g.5011C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000056.3:c.-57C>G NP_000047.1:n.-57C>G
NM_183050.2:c.-57C>G NP_898871.1:n.-57C>G
NM_000056.4:c.-57C>G NP_000047.1:n.-57C>G
NM_001318975.1:c.-61C>G NP_001305904.1:n.-61C>G
NM_183050.3:c.-57C>G NP_898871.1:n.-57C>G
NR_134945.1:n.28C>G