Canonical Allele Identifier: CA568600908

Gene: BCKDHB

Linked Data

• dbSNP Id: rs935014031
• gnomAD v2: 6-80816360-C-T
• gnomAD v3: 6-80106643-C-T
• gnomAD v4: 6-80106643-C-T
• MyVariant Identifiers: chr6:g.80816360C>T (hg19) ; chr6:g.80106643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106643C>T , CM000668.2:g.80106643C>T	GRCh38
NC_000006.11:g.80816360C>T , CM000668.1:g.80816360C>T	GRCh37
NC_000006.10:g.80873079C>T	NCBI36
NG_009775.1:g.5017C>T
NG_009775.2:g.5017C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000056.3:c.-51C>T	NP_000047.1:n.-51C>T
NM_183050.2:c.-51C>T	NP_898871.1:n.-51C>T
NM_000056.4:c.-51C>T	NP_000047.1:n.-51C>T
NM_001318975.1:c.-55C>T	NP_001305904.1:n.-55C>T
NM_183050.3:c.-51C>T	NP_898871.1:n.-51C>T
NR_134945.1:n.34C>T