Canonical Allele Identifier: CA3902858

Gene: BCKDHB

Linked Data

• dbSNP Id: rs755159101
• ExAC: 6:81053502 G / A
• gnomAD v2: 6-81053502-G-A
• gnomAD v3: 6-80343785-G-A
• gnomAD v4: 6-80343785-G-A
• COSMIC: COSM1446103
• MyVariant Identifiers: chr6:g.81053502G>A (hg19) ; chr6:g.80343785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343785G>A , CM000668.2:g.80343785G>A	GRCh38
NC_000006.11:g.81053502G>A , CM000668.1:g.81053502G>A	GRCh37
NC_000006.10:g.81110221G>A	NCBI36
NG_009775.1:g.242159G>A
NG_009775.2:g.242159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1160G>A MANE Select	ENSP00000318351.5:p.Arg387Gln
ENST00000320393.8:c.1160G>A	ENSP00000318351.5:p.Arg387Gln
ENST00000356489.9:c.1160G>A	ENSP00000348880.5:p.Arg387Gln
ENST00000491328.1:n.215G>A
NM_000056.3:c.1160G>A	NP_000047.1:p.Arg387Gln
NM_183050.2:c.1160G>A	NP_898871.1:p.Arg387Gln
XM_006715542.2:c.950G>A	XP_006715605.1:p.Arg317Gln
XM_011536024.1:c.*166G>A	XP_011534326.1:n.*166G>A
XM_011536026.1:c.950G>A	XP_011534328.1:p.Arg317Gln
NM_000056.4:c.1160G>A	NP_000047.1:p.Arg387Gln
NM_001318975.1:c.950G>A	NP_001305904.1:p.Arg317Gln
NM_183050.3:c.1160G>A	NP_898871.1:p.Arg387Gln
NR_134945.1:n.1338G>A
XM_011536024.3:c.*166G>A	XP_011534326.1:n.*166G>A
XR_001743546.2:n.1068+70564G>A
XR_001743547.2:n.1068+70564G>A
XR_001743548.2:n.1068+70564G>A
XR_001743549.2:n.1068+70564G>A
XR_002956292.1:n.1068+70564G>A
NM_183050.4:c.1160G>A MANE Select	NP_898871.1:p.Arg387Gln
NR_134945.2:n.1277G>A
NM_000056.5:c.1160G>A	NP_000047.1:p.Arg387Gln