Canonical Allele Identifier: CA365021640

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 3133369
• ClinVar RCV Id: RCV004426262
• gnomAD v4: 6-80343794-T-A
• MyVariant Identifiers: chr6:g.81053511T>A (hg19) ; chr6:g.80343794T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343794T>A , CM000668.2:g.80343794T>A	GRCh38
NC_000006.11:g.81053511T>A , CM000668.1:g.81053511T>A	GRCh37
NC_000006.10:g.81110230T>A	NCBI36
NG_009775.1:g.242168T>A
NG_009775.2:g.242168T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1169T>A MANE Select	ENSP00000318351.5:p.Ile390Asn
ENST00000320393.8:c.1169T>A	ENSP00000318351.5:p.Ile390Asn
ENST00000356489.9:c.1169T>A	ENSP00000348880.5:p.Ile390Asn
ENST00000491328.1:n.224T>A
NM_000056.3:c.1169T>A	NP_000047.1:p.Ile390Asn
NM_183050.2:c.1169T>A	NP_898871.1:p.Ile390Asn
XM_006715542.2:c.959T>A	XP_006715605.1:p.Ile320Asn
XM_011536024.1:c.*175T>A	XP_011534326.1:n.*175T>A
XM_011536026.1:c.959T>A	XP_011534328.1:p.Ile320Asn
NM_000056.4:c.1169T>A	NP_000047.1:p.Ile390Asn
NM_001318975.1:c.959T>A	NP_001305904.1:p.Ile320Asn
NM_183050.3:c.1169T>A	NP_898871.1:p.Ile390Asn
NR_134945.1:n.1347T>A
XM_011536024.3:c.*175T>A	XP_011534326.1:n.*175T>A
XR_001743546.2:n.1068+70573T>A
XR_001743547.2:n.1068+70573T>A
XR_001743548.2:n.1068+70573T>A
XR_001743549.2:n.1068+70573T>A
XR_002956292.1:n.1068+70573T>A
NM_183050.4:c.1169T>A MANE Select	NP_898871.1:p.Ile390Asn
NR_134945.2:n.1286T>A
NM_000056.5:c.1169T>A	NP_000047.1:p.Ile390Asn