Canonical Allele Identifier: CA2679499392

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80343852-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343852C>A , CM000668.2:g.80343852C>A	GRCh38
NC_000006.11:g.81053569C>A , CM000668.1:g.81053569C>A	GRCh37
NC_000006.10:g.81110288C>A	NCBI36
NG_009775.1:g.242226C>A
NG_009775.2:g.242226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*48C>A MANE Select	ENSP00000318351.5:n.*48C>A
ENST00000320393.8:c.*48C>A	ENSP00000318351.5:n.*48C>A
ENST00000356489.9:c.*8+40C>A	ENSP00000348880.5:n.*8+40C>A
ENST00000491328.1:n.242+40C>A
NM_000056.3:c.*8+40C>A	NP_000047.1:n.*8+40C>A
NM_183050.2:c.*48C>A	NP_898871.1:n.*48C>A
NM_000056.4:c.*8+40C>A	NP_000047.1:n.*8+40C>A
NM_001318975.1:c.*48C>A	NP_001305904.1:n.*48C>A
NM_183050.3:c.*48C>A	NP_898871.1:n.*48C>A
NR_134945.1:n.1405C>A
XM_011536024.3:c.*233C>A	XP_011534326.1:n.*233C>A
XR_001743546.2:n.1068+70631C>A
XR_001743547.2:n.1068+70631C>A
XR_001743548.2:n.1068+70631C>A
XR_001743549.2:n.1068+70631C>A
XR_002956292.1:n.1068+70631C>A
NM_183050.4:c.*48C>A MANE Select	NP_898871.1:n.*48C>A
NR_134945.2:n.1344C>A
NM_000056.5:c.*8+40C>A	NP_000047.1:n.*8+40C>A