Canonical Allele Identifier: CA224304

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 96591
• ClinVar RCV Id: RCV000082749 ; RCV000179047
• dbSNP Id: rs371518124
• ExAC: 6:80878623 G / A
• gnomAD v2: 6-80878623-G-A
• gnomAD v3: 6-80168906-G-A
• gnomAD v4: 6-80168906-G-A
• MyVariant Identifiers: chr6:g.80878623G>A (hg19) ; chr6:g.80878623_80878624delinsAC (hg19) ; chr6:g.80168906G>A (hg38) ; chr6:g.80168906_80168907delinsAC (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168906G>A , CM000668.2:g.80168906G>A	GRCh38
NC_000006.11:g.80878623G>A , CM000668.1:g.80878623G>A	GRCh37
NC_000006.10:g.80935342G>A	NCBI36
NG_009775.1:g.67280G>A
NG_009775.2:g.67280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.509G>A MANE Select	ENSP00000318351.5:p.Arg170His
ENST00000320393.8:c.509G>A	ENSP00000318351.5:p.Arg170His
ENST00000356489.9:c.509G>A	ENSP00000348880.5:p.Arg170His
ENST00000369760.8:c.509G>A	ENSP00000358775.4:p.Arg170His
NM_000056.3:c.509G>A	NP_000047.1:p.Arg170His
NM_183050.2:c.509G>A	NP_898871.1:p.Arg170His
XM_005248756.3:c.509G>A	XP_005248813.1:p.Arg170His
XM_006715542.2:c.299G>A	XP_006715605.1:p.Arg100His
XM_011536023.1:c.509G>A	XP_011534325.1:p.Arg170His
XM_011536024.1:c.509G>A	XP_011534326.1:p.Arg170His
XM_011536025.1:c.509G>A	XP_011534327.1:p.Arg170His
XM_011536026.1:c.299G>A	XP_011534328.1:p.Arg100His
XM_011536027.1:c.509G>A	XP_011534329.1:p.Arg170His
NM_000056.4:c.509G>A	NP_000047.1:p.Arg170His
NM_001318975.1:c.299G>A	NP_001305904.1:p.Arg100His
NM_183050.3:c.509G>A	NP_898871.1:p.Arg170His
NR_134945.1:n.593G>A
XM_005248756.5:c.509G>A	XP_005248813.1:p.Arg170His
XM_011536023.3:c.509G>A	XP_011534325.1:p.Arg170His
XM_011536024.3:c.509G>A	XP_011534326.1:p.Arg170His
XM_011536025.3:c.509G>A	XP_011534327.1:p.Arg170His
XR_001743546.2:n.539G>A
XR_001743547.2:n.539G>A
XR_001743548.2:n.539G>A
XR_001743549.2:n.539G>A
XR_002956292.1:n.539G>A
NM_183050.4:c.509G>A MANE Select	NP_898871.1:p.Arg170His
NR_134945.2:n.532G>A
NM_000056.5:c.509G>A	NP_000047.1:p.Arg170His