Canonical Allele Identifier: CA1641009968

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1222612774
• gnomAD v4: 6-80343900-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343900G>A , CM000668.2:g.80343900G>A	GRCh38
NC_000006.11:g.81053617G>A , CM000668.1:g.81053617G>A	GRCh37
NC_000006.10:g.81110336G>A	NCBI36
NG_009775.1:g.242274G>A
NG_009775.2:g.242274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*96G>A MANE Select	ENSP00000318351.5:n.*96G>A
ENST00000320393.8:c.*96G>A	ENSP00000318351.5:n.*96G>A
ENST00000356489.9:c.*8+88G>A	ENSP00000348880.5:n.*8+88G>A
ENST00000491328.1:n.242+88G>A
NM_000056.3:c.*8+88G>A	NP_000047.1:n.*8+88G>A
NM_183050.2:c.*96G>A	NP_898871.1:n.*96G>A
NM_000056.4:c.*8+88G>A	NP_000047.1:n.*8+88G>A
NM_001318975.1:c.*96G>A	NP_001305904.1:n.*96G>A
NM_183050.3:c.*96G>A	NP_898871.1:n.*96G>A
NR_134945.1:n.1453G>A
XM_011536024.3:c.*281G>A	XP_011534326.1:n.*281G>A
XR_001743546.2:n.1068+70679G>A
XR_001743547.2:n.1068+70679G>A
XR_001743548.2:n.1068+70679G>A
XR_001743549.2:n.1068+70679G>A
XR_002956292.1:n.1068+70679G>A
NM_183050.4:c.*96G>A MANE Select	NP_898871.1:n.*96G>A
NR_134945.2:n.1392G>A
NM_000056.5:c.*8+88G>A	NP_000047.1:n.*8+88G>A