Canonical Allele Identifier: CA142276811

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1012531786
• MyVariant Identifiers: chr6:g.80816365G>A (hg19) ; chr6:g.80106648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106648G>A , CM000668.2:g.80106648G>A	GRCh38
NC_000006.11:g.80816365G>A , CM000668.1:g.80816365G>A	GRCh37
NC_000006.10:g.80873084G>A	NCBI36
NG_009775.1:g.5022G>A
NG_009775.2:g.5022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.8:c.-46G>A	ENSP00000318351.5:n.-46G>A
ENST00000356489.9:c.-46G>A	ENSP00000348880.5:n.-46G>A
ENST00000369760.8:c.-46G>A	ENSP00000358775.4:n.-46G>A
NM_000056.3:c.-46G>A	NP_000047.1:n.-46G>A
NM_183050.2:c.-46G>A	NP_898871.1:n.-46G>A
XM_006715542.2:c.-50G>A	XP_006715605.1:n.-50G>A
NM_000056.4:c.-46G>A	NP_000047.1:n.-46G>A
NM_001318975.1:c.-50G>A	NP_001305904.1:n.-50G>A
NM_183050.3:c.-46G>A	NP_898871.1:n.-46G>A
NR_134945.1:n.39G>A