Canonical Allele Identifier: CA568600916

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1376835767
• gnomAD v2: 6-80816377-C-G
• gnomAD v3: 6-80106660-C-G
• gnomAD v4: 6-80106660-C-G
• MyVariant Identifiers: chr6:g.80816377C>G (hg19) ; chr6:g.80106660C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106660C>G , CM000668.2:g.80106660C>G	GRCh38
NC_000006.11:g.80816377C>G , CM000668.1:g.80816377C>G	GRCh37
NC_000006.10:g.80873096C>G	NCBI36
NG_009775.1:g.5034C>G
NG_009775.2:g.5034C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.8:c.-34C>G	ENSP00000318351.5:n.-34C>G
ENST00000356489.9:c.-34C>G	ENSP00000348880.5:n.-34C>G
ENST00000369760.8:c.-34C>G	ENSP00000358775.4:n.-34C>G
NM_000056.3:c.-34C>G	NP_000047.1:n.-34C>G
NM_183050.2:c.-34C>G	NP_898871.1:n.-34C>G
XM_006715542.2:c.-38C>G	XP_006715605.1:n.-38C>G
NM_000056.4:c.-34C>G	NP_000047.1:n.-34C>G
NM_001318975.1:c.-38C>G	NP_001305904.1:n.-38C>G
NM_183050.3:c.-34C>G	NP_898871.1:n.-34C>G
NR_134945.1:n.51C>G