Canonical Allele Identifier: CA1090973730

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1769059330
• gnomAD v3: 6-80106611-A-G
• gnomAD v4: 6-80106611-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106611A>G , CM000668.2:g.80106611A>G	GRCh38
NC_000006.11:g.80816328A>G , CM000668.1:g.80816328A>G	GRCh37
NC_000006.10:g.80873047A>G	NCBI36
NG_009775.1:g.4985A>G
NG_009775.2:g.4985A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000056.4:c.-83A>G	NP_000047.1:n.-83A>G
NM_001318975.1:c.-87A>G	NP_001305904.1:n.-87A>G
NM_183050.3:c.-83A>G	NP_898871.1:n.-83A>G
NR_134945.1:n.2A>G