Canonical Allele Identifier: CA3902600

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 496569
• ClinVar RCV Id: RCV000589594 ; RCV000732154 ; RCV001796129 ; RCV001814191
• dbSNP Id: rs751953459
• ExAC: 6:80877454 G / A
• gnomAD v2: 6-80877454-G-A
• gnomAD v4: 6-80167737-G-A
• MyVariant Identifiers: chr6:g.80877454G>A (hg19) ; chr6:g.80167737G>A (hg38)
• PubMed: PMID:14517957 ; PMID:16786533 ; PMID:24772966

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80167737G>A , CM000668.2:g.80167737G>A	GRCh38
NC_000006.11:g.80877454G>A , CM000668.1:g.80877454G>A	GRCh37
NC_000006.10:g.80934173G>A	NCBI36
NG_009775.1:g.66111G>A
NG_009775.2:g.66111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.403G>A MANE Select	ENSP00000318351.5:p.Gly135Arg
ENST00000320393.8:c.403G>A	ENSP00000318351.5:p.Gly135Arg
ENST00000356489.9:c.403G>A	ENSP00000348880.5:p.Gly135Arg
ENST00000369760.8:c.403G>A	ENSP00000358775.4:p.Gly135Arg
NM_000056.3:c.403G>A	NP_000047.1:p.Gly135Arg
NM_183050.2:c.403G>A	NP_898871.1:p.Gly135Arg
XM_005248756.3:c.403G>A	XP_005248813.1:p.Gly135Arg
XM_006715542.2:c.193G>A	XP_006715605.1:p.Gly65Arg
XM_011536023.1:c.403G>A	XP_011534325.1:p.Gly135Arg
XM_011536024.1:c.403G>A	XP_011534326.1:p.Gly135Arg
XM_011536025.1:c.403G>A	XP_011534327.1:p.Gly135Arg
XM_011536026.1:c.193G>A	XP_011534328.1:p.Gly65Arg
XM_011536027.1:c.403G>A	XP_011534329.1:p.Gly135Arg
NM_000056.4:c.403G>A	NP_000047.1:p.Gly135Arg
NM_001318975.1:c.193G>A	NP_001305904.1:p.Gly65Arg
NM_183050.3:c.403G>A	NP_898871.1:p.Gly135Arg
NR_134945.1:n.487G>A
XM_005248756.5:c.403G>A	XP_005248813.1:p.Gly135Arg
XM_011536023.3:c.403G>A	XP_011534325.1:p.Gly135Arg
XM_011536024.3:c.403G>A	XP_011534326.1:p.Gly135Arg
XM_011536025.3:c.403G>A	XP_011534327.1:p.Gly135Arg
XR_001743546.2:n.433G>A
XR_001743547.2:n.433G>A
XR_001743548.2:n.433G>A
XR_001743549.2:n.433G>A
XR_002956292.1:n.433G>A
NM_183050.4:c.403G>A MANE Select	NP_898871.1:p.Gly135Arg
NR_134945.2:n.426G>A
NM_000056.5:c.403G>A	NP_000047.1:p.Gly135Arg