Canonical Allele Identifier: CA224256

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 96569
• ClinVar RCV Id: RCV000082727
• dbSNP Id: rs398124566
• gnomAD v4: 6-80343772-T-G
• MyVariant Identifiers: chr6:g.81053489T>G (hg19) ; chr6:g.80343772T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343772T>G , CM000668.2:g.80343772T>G	GRCh38
NC_000006.11:g.81053489T>G , CM000668.1:g.81053489T>G	GRCh37
NC_000006.10:g.81110208T>G	NCBI36
NG_009775.1:g.242146T>G
NG_009775.2:g.242146T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1147T>G MANE Select	ENSP00000318351.5:p.Tyr383Asp
ENST00000320393.8:c.1147T>G	ENSP00000318351.5:p.Tyr383Asp
ENST00000356489.9:c.1147T>G	ENSP00000348880.5:p.Tyr383Asp
ENST00000491328.1:n.202T>G
NM_000056.3:c.1147T>G	NP_000047.1:p.Tyr383Asp
NM_183050.2:c.1147T>G	NP_898871.1:p.Tyr383Asp
XM_006715542.2:c.937T>G	XP_006715605.1:p.Tyr313Asp
XM_011536024.1:c.*153T>G	XP_011534326.1:n.*153T>G
XM_011536026.1:c.937T>G	XP_011534328.1:p.Tyr313Asp
NM_000056.4:c.1147T>G	NP_000047.1:p.Tyr383Asp
NM_001318975.1:c.937T>G	NP_001305904.1:p.Tyr313Asp
NM_183050.3:c.1147T>G	NP_898871.1:p.Tyr383Asp
NR_134945.1:n.1325T>G
XM_011536024.3:c.*153T>G	XP_011534326.1:n.*153T>G
XR_001743546.2:n.1068+70551T>G
XR_001743547.2:n.1068+70551T>G
XR_001743548.2:n.1068+70551T>G
XR_001743549.2:n.1068+70551T>G
XR_002956292.1:n.1068+70551T>G
NM_183050.4:c.1147T>G MANE Select	NP_898871.1:p.Tyr383Asp
NR_134945.2:n.1264T>G
NM_000056.5:c.1147T>G	NP_000047.1:p.Tyr383Asp