Canonical Allele Identifier: CA224298

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 96589
• ClinVar RCV Id: RCV000179045
• dbSNP Id: rs398124581
• ExAC: 6:80878622 C / G
• gnomAD v2: 6-80878622-C-G
• gnomAD v3: 6-80168905-C-G
• gnomAD v4: 6-80168905-C-G
• MyVariant Identifiers: chr6:g.80878622C>G (hg19) ; chr6:g.80168905C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168905C>G , CM000668.2:g.80168905C>G	GRCh38
NC_000006.11:g.80878622C>G , CM000668.1:g.80878622C>G	GRCh37
NC_000006.10:g.80935341C>G	NCBI36
NG_009775.1:g.67279C>G
NG_009775.2:g.67279C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320393.9:c.508C>G MANE Select	ENSP00000318351.5:p.Arg170Gly
ENST00000320393.8:c.508C>G	ENSP00000318351.5:p.Arg170Gly
ENST00000356489.9:c.508C>G	ENSP00000348880.5:p.Arg170Gly
ENST00000369760.8:c.508C>G	ENSP00000358775.4:p.Arg170Gly
NM_000056.3:c.508C>G	NP_000047.1:p.Arg170Gly
NM_183050.2:c.508C>G	NP_898871.1:p.Arg170Gly
XM_005248756.3:c.508C>G	XP_005248813.1:p.Arg170Gly
XM_006715542.2:c.298C>G	XP_006715605.1:p.Arg100Gly
XM_011536023.1:c.508C>G	XP_011534325.1:p.Arg170Gly
XM_011536024.1:c.508C>G	XP_011534326.1:p.Arg170Gly
XM_011536025.1:c.508C>G	XP_011534327.1:p.Arg170Gly
XM_011536026.1:c.298C>G	XP_011534328.1:p.Arg100Gly
XM_011536027.1:c.508C>G	XP_011534329.1:p.Arg170Gly
NM_000056.4:c.508C>G	NP_000047.1:p.Arg170Gly
NM_001318975.1:c.298C>G	NP_001305904.1:p.Arg100Gly
NM_183050.3:c.508C>G	NP_898871.1:p.Arg170Gly
NR_134945.1:n.592C>G
XM_005248756.5:c.508C>G	XP_005248813.1:p.Arg170Gly
XM_011536023.3:c.508C>G	XP_011534325.1:p.Arg170Gly
XM_011536024.3:c.508C>G	XP_011534326.1:p.Arg170Gly
XM_011536025.3:c.508C>G	XP_011534327.1:p.Arg170Gly
XR_001743546.2:n.538C>G
XR_001743547.2:n.538C>G
XR_001743548.2:n.538C>G
XR_001743549.2:n.538C>G
XR_002956292.1:n.538C>G
NM_183050.4:c.508C>G MANE Select	NP_898871.1:p.Arg170Gly
NR_134945.2:n.531C>G
NM_000056.5:c.508C>G	NP_000047.1:p.Arg170Gly