Canonical Allele Identifier: CA142276812

Gene: BCKDHB

Linked Data

• dbSNP Id: rs967393914
• gnomAD v3: 6-80106652-G-C
• gnomAD v4: 6-80106652-G-C
• MyVariant Identifiers: chr6:g.80816369G>C (hg19) ; chr6:g.80106652G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106652G>C , CM000668.2:g.80106652G>C	GRCh38
NC_000006.11:g.80816369G>C , CM000668.1:g.80816369G>C	GRCh37
NC_000006.10:g.80873088G>C	NCBI36
NG_009775.1:g.5026G>C
NG_009775.2:g.5026G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.8:c.-42G>C	ENSP00000318351.5:n.-42G>C
ENST00000356489.9:c.-42G>C	ENSP00000348880.5:n.-42G>C
ENST00000369760.8:c.-42G>C	ENSP00000358775.4:n.-42G>C
NM_000056.3:c.-42G>C	NP_000047.1:n.-42G>C
NM_183050.2:c.-42G>C	NP_898871.1:n.-42G>C
XM_006715542.2:c.-46G>C	XP_006715605.1:n.-46G>C
NM_000056.4:c.-42G>C	NP_000047.1:n.-42G>C
NM_001318975.1:c.-46G>C	NP_001305904.1:n.-46G>C
NM_183050.3:c.-42G>C	NP_898871.1:n.-42G>C
NR_134945.1:n.43G>C