Canonical Allele Identifier: CA224347

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 65771
• ClinVar RCV Id: RCV000056009 ; RCV000762424 ; RCV000587416
• dbSNP Id: rs386834233
• ExAC: 6:80910740 G / A
• gnomAD v2: 6-80910740-G-A
• gnomAD v3: 6-80201023-G-A
• gnomAD v4: 6-80201023-G-A
• MyVariant Identifiers: chr6:g.80910740G>A (hg19) ; chr6:g.80201023G>A (hg38)
• PubMed: PMID:11509994 ; PMID:14517957 ; PMID:14567968 ; PMID:17922217 ; PMID:20301495 ; PMID:20307994 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80201023G>A , CM000668.2:g.80201023G>A	GRCh38
NC_000006.11:g.80910740G>A , CM000668.1:g.80910740G>A	GRCh37
NC_000006.10:g.80967459G>A	NCBI36
NG_009775.1:g.99397G>A
NG_009775.2:g.99397G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.832G>A MANE Select	ENSP00000318351.5:p.Gly278Ser
ENST00000320393.8:c.832G>A	ENSP00000318351.5:p.Gly278Ser
ENST00000356489.9:c.832G>A	ENSP00000348880.5:p.Gly278Ser
NM_000056.3:c.832G>A	NP_000047.1:p.Gly278Ser
NM_183050.2:c.832G>A	NP_898871.1:p.Gly278Ser
XM_005248756.3:c.832G>A	XP_005248813.1:p.Gly278Ser
XM_006715542.2:c.622G>A	XP_006715605.1:p.Gly208Ser
XM_011536023.1:c.832G>A	XP_011534325.1:p.Gly278Ser
XM_011536024.1:c.832G>A	XP_011534326.1:p.Gly278Ser
XM_011536025.1:c.832G>A	XP_011534327.1:p.Gly278Ser
XM_011536026.1:c.622G>A	XP_011534328.1:p.Gly208Ser
NM_000056.4:c.832G>A	NP_000047.1:p.Gly278Ser
NM_001318975.1:c.622G>A	NP_001305904.1:p.Gly208Ser
NM_183050.3:c.832G>A	NP_898871.1:p.Gly278Ser
NR_134945.1:n.1010G>A
XM_005248756.5:c.832G>A	XP_005248813.1:p.Gly278Ser
XM_011536023.3:c.832G>A	XP_011534325.1:p.Gly278Ser
XM_011536024.3:c.832G>A	XP_011534326.1:p.Gly278Ser
XM_011536025.3:c.832G>A	XP_011534327.1:p.Gly278Ser
XR_001743546.2:n.862G>A
XR_001743547.2:n.862G>A
XR_001743548.2:n.862G>A
XR_001743549.2:n.862G>A
XR_002956292.1:n.862G>A
NM_183050.4:c.832G>A MANE Select	NP_898871.1:p.Gly278Ser
NR_134945.2:n.949G>A
NM_000056.5:c.832G>A	NP_000047.1:p.Gly278Ser