Canonical Allele Identifier: CA142276839
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2300660
ClinVar RCV Id: RCV002883034
dbSNP Id: rs1056140548
gnomAD v2: 6-80816589-C-T
gnomAD v3: 6-80106872-C-T
gnomAD v4: 6-80106872-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106872C>T , CM000668.2:g.80106872C>T GRCh38
NC_000006.11:g.80816589C>T , CM000668.1:g.80816589C>T GRCh37
NC_000006.10:g.80873308C>T NCBI36
NG_009775.1:g.5246C>T
NG_009775.2:g.5246C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320393.9:c.179C>T MANE Select ENSP00000318351.5:p.Pro60Leu
ENST00000320393.8:c.179C>T ENSP00000318351.5:p.Pro60Leu
ENST00000356489.9:c.179C>T ENSP00000348880.5:p.Pro60Leu
ENST00000369760.8:c.179C>T ENSP00000358775.4:p.Pro60Leu
NM_000056.3:c.179C>T NP_000047.1:p.Pro60Leu
NM_183050.2:c.179C>T NP_898871.1:p.Pro60Leu
XM_005248756.3:c.179C>T XP_005248813.1:p.Pro60Leu
XM_006715542.2:c.-15+189C>T XP_006715605.1:n.-15+189C>T
XM_011536023.1:c.179C>T XP_011534325.1:p.Pro60Leu
XM_011536024.1:c.179C>T XP_011534326.1:p.Pro60Leu
XM_011536025.1:c.179C>T XP_011534327.1:p.Pro60Leu
XM_011536027.1:c.179C>T XP_011534329.1:p.Pro60Leu
NM_000056.4:c.179C>T NP_000047.1:p.Pro60Leu
NM_001318975.1:c.-15+189C>T NP_001305904.1:n.-15+189C>T
NM_183050.3:c.179C>T NP_898871.1:p.Pro60Leu
NR_134945.1:n.263C>T
XM_005248756.5:c.179C>T XP_005248813.1:p.Pro60Leu
XM_011536023.3:c.179C>T XP_011534325.1:p.Pro60Leu
XM_011536024.3:c.179C>T XP_011534326.1:p.Pro60Leu
XM_011536025.3:c.179C>T XP_011534327.1:p.Pro60Leu
XR_001743546.2:n.209C>T
XR_001743547.2:n.209C>T
XR_001743548.2:n.209C>T
XR_001743549.2:n.209C>T
XR_002956292.1:n.209C>T
NM_183050.4:c.179C>T MANE Select NP_898871.1:p.Pro60Leu
NR_134945.2:n.202C>T
NM_000056.5:c.179C>T NP_000047.1:p.Pro60Leu