Canonical Allele Identifier: CA568600911

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1203609821
• gnomAD v2: 6-80816363-C-T
• gnomAD v4: 6-80106646-C-T
• MyVariant Identifiers: chr6:g.80816363C>T (hg19) ; chr6:g.80106646C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106646C>T , CM000668.2:g.80106646C>T	GRCh38
NC_000006.11:g.80816363C>T , CM000668.1:g.80816363C>T	GRCh37
NC_000006.10:g.80873082C>T	NCBI36
NG_009775.1:g.5020C>T
NG_009775.2:g.5020C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000056.3:c.-48C>T	NP_000047.1:n.-48C>T
NM_183050.2:c.-48C>T	NP_898871.1:n.-48C>T
XM_006715542.2:c.-52C>T	XP_006715605.1:n.-52C>T
NM_000056.4:c.-48C>T	NP_000047.1:n.-48C>T
NM_001318975.1:c.-52C>T	NP_001305904.1:n.-52C>T
NM_183050.3:c.-48C>T	NP_898871.1:n.-48C>T
NR_134945.1:n.37C>T