Canonical Allele Identifier: CA568600909

Gene: BCKDHB

Linked Data

• dbSNP Id: rs958531671
• gnomAD v2: 6-80816361-C-A
• gnomAD v4: 6-80106644-C-A
• MyVariant Identifiers: chr6:g.80816361C>A (hg19) ; chr6:g.80106644C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106644C>A , CM000668.2:g.80106644C>A	GRCh38
NC_000006.11:g.80816361C>A , CM000668.1:g.80816361C>A	GRCh37
NC_000006.10:g.80873080C>A	NCBI36
NG_009775.1:g.5018C>A
NG_009775.2:g.5018C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000056.3:c.-50C>A	NP_000047.1:n.-50C>A
NM_183050.2:c.-50C>A	NP_898871.1:n.-50C>A
XM_006715542.2:c.-54C>A	XP_006715605.1:n.-54C>A
NM_000056.4:c.-50C>A	NP_000047.1:n.-50C>A
NM_001318975.1:c.-54C>A	NP_001305904.1:n.-54C>A
NM_183050.3:c.-50C>A	NP_898871.1:n.-50C>A
NR_134945.1:n.35C>A