Canonical Allele Identifier: CA3902467

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 968447
• ClinVar RCV Id: RCV001243582 ; RCV001829036
• dbSNP Id: rs769876670
• ExAC: 6:80816415 C / T
• gnomAD v2: 6-80816415-C-T
• gnomAD v3: 6-80106698-C-T
• gnomAD v4: 6-80106698-C-T
• MyVariant Identifiers: chr6:g.80816415C>T (hg19) ; chr6:g.80106698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106698C>T , CM000668.2:g.80106698C>T	GRCh38
NC_000006.11:g.80816415C>T , CM000668.1:g.80816415C>T	GRCh37
NC_000006.10:g.80873134C>T	NCBI36
NG_009775.1:g.5072C>T
NG_009775.2:g.5072C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320393.9:c.5C>T MANE Select	ENSP00000318351.5:p.Ala2Val
ENST00000320393.8:c.5C>T	ENSP00000318351.5:p.Ala2Val
ENST00000356489.9:c.5C>T	ENSP00000348880.5:p.Ala2Val
ENST00000369760.8:c.5C>T	ENSP00000358775.4:p.Ala2Val
NM_000056.3:c.5C>T	NP_000047.1:p.Ala2Val
NM_183050.2:c.5C>T	NP_898871.1:p.Ala2Val
XM_005248756.3:c.5C>T	XP_005248813.1:p.Ala2Val
XM_006715542.2:c.-15+15C>T	XP_006715605.1:n.-15+15C>T
XM_011536023.1:c.5C>T	XP_011534325.1:p.Ala2Val
XM_011536024.1:c.5C>T	XP_011534326.1:p.Ala2Val
XM_011536025.1:c.5C>T	XP_011534327.1:p.Ala2Val
XM_011536027.1:c.5C>T	XP_011534329.1:p.Ala2Val
NM_000056.4:c.5C>T	NP_000047.1:p.Ala2Val
NM_001318975.1:c.-15+15C>T	NP_001305904.1:n.-15+15C>T
NM_183050.3:c.5C>T	NP_898871.1:p.Ala2Val
NR_134945.1:n.89C>T
XM_005248756.5:c.5C>T	XP_005248813.1:p.Ala2Val
XM_011536023.3:c.5C>T	XP_011534325.1:p.Ala2Val
XM_011536024.3:c.5C>T	XP_011534326.1:p.Ala2Val
XM_011536025.3:c.5C>T	XP_011534327.1:p.Ala2Val
XR_001743546.2:n.35C>T
XR_001743547.2:n.35C>T
XR_001743548.2:n.35C>T
XR_001743549.2:n.35C>T
XR_002956292.1:n.35C>T
NM_183050.4:c.5C>T MANE Select	NP_898871.1:p.Ala2Val
NR_134945.2:n.28C>T
NM_000056.5:c.5C>T	NP_000047.1:p.Ala2Val