Canonical Allele Identifier: CA365021623

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 1920771
• ClinVar RCV Id: RCV002604247
• dbSNP Id: rs1338173021
• gnomAD v2: 6-81053504-A-G
• gnomAD v4: 6-80343787-A-G
• MyVariant Identifiers: chr6:g.81053504A>G (hg19) ; chr6:g.80343787A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343787A>G , CM000668.2:g.80343787A>G	GRCh38
NC_000006.11:g.81053504A>G , CM000668.1:g.81053504A>G	GRCh37
NC_000006.10:g.81110223A>G	NCBI36
NG_009775.1:g.242161A>G
NG_009775.2:g.242161A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1162A>G MANE Select	ENSP00000318351.5:p.Lys388Glu
ENST00000320393.8:c.1162A>G	ENSP00000318351.5:p.Lys388Glu
ENST00000356489.9:c.1162A>G	ENSP00000348880.5:p.Lys388Glu
ENST00000491328.1:n.217A>G
NM_000056.3:c.1162A>G	NP_000047.1:p.Lys388Glu
NM_183050.2:c.1162A>G	NP_898871.1:p.Lys388Glu
XM_006715542.2:c.952A>G	XP_006715605.1:p.Lys318Glu
XM_011536024.1:c.*168A>G	XP_011534326.1:n.*168A>G
XM_011536026.1:c.952A>G	XP_011534328.1:p.Lys318Glu
NM_000056.4:c.1162A>G	NP_000047.1:p.Lys388Glu
NM_001318975.1:c.952A>G	NP_001305904.1:p.Lys318Glu
NM_183050.3:c.1162A>G	NP_898871.1:p.Lys388Glu
NR_134945.1:n.1340A>G
XM_011536024.3:c.*168A>G	XP_011534326.1:n.*168A>G
XR_001743546.2:n.1068+70566A>G
XR_001743547.2:n.1068+70566A>G
XR_001743548.2:n.1068+70566A>G
XR_001743549.2:n.1068+70566A>G
XR_002956292.1:n.1068+70566A>G
NM_183050.4:c.1162A>G MANE Select	NP_898871.1:p.Lys388Glu
NR_134945.2:n.1279A>G
NM_000056.5:c.1162A>G	NP_000047.1:p.Lys388Glu