Canonical Allele Identifier: CA142284038
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2147982
ClinVar RCV Id: RCV003061178
dbSNP Id: rs1009457715
gnomAD v4: 6-80168981-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80168981A>G , CM000668.2:g.80168981A>G GRCh38
NC_000006.11:g.80878698A>G , CM000668.1:g.80878698A>G GRCh37
NC_000006.10:g.80935417A>G NCBI36
NG_009775.1:g.67355A>G
NG_009775.2:g.67355A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320393.9:c.584A>G MANE Select ENSP00000318351.5:p.Tyr195Cys
ENST00000320393.8:c.584A>G ENSP00000318351.5:p.Tyr195Cys
ENST00000356489.9:c.584A>G ENSP00000348880.5:p.Tyr195Cys
ENST00000369760.8:c.584A>G ENSP00000358775.4:p.Tyr195Cys
NM_000056.3:c.584A>G NP_000047.1:p.Tyr195Cys
NM_183050.2:c.584A>G NP_898871.1:p.Tyr195Cys
XM_005248756.3:c.584A>G XP_005248813.1:p.Tyr195Cys
XM_006715542.2:c.374A>G XP_006715605.1:p.Tyr125Cys
XM_011536023.1:c.584A>G XP_011534325.1:p.Tyr195Cys
XM_011536024.1:c.584A>G XP_011534326.1:p.Tyr195Cys
XM_011536025.1:c.584A>G XP_011534327.1:p.Tyr195Cys
XM_011536026.1:c.374A>G XP_011534328.1:p.Tyr125Cys
XM_011536027.1:c.584A>G XP_011534329.1:p.Tyr195Cys
NM_000056.4:c.584A>G NP_000047.1:p.Tyr195Cys
NM_001318975.1:c.374A>G NP_001305904.1:p.Tyr125Cys
NM_183050.3:c.584A>G NP_898871.1:p.Tyr195Cys
NR_134945.1:n.668A>G
XM_005248756.5:c.584A>G XP_005248813.1:p.Tyr195Cys
XM_011536023.3:c.584A>G XP_011534325.1:p.Tyr195Cys
XM_011536024.3:c.584A>G XP_011534326.1:p.Tyr195Cys
XM_011536025.3:c.584A>G XP_011534327.1:p.Tyr195Cys
XR_001743546.2:n.614A>G
XR_001743547.2:n.614A>G
XR_001743548.2:n.614A>G
XR_001743549.2:n.614A>G
XR_002956292.1:n.614A>G
NM_183050.4:c.584A>G MANE Select NP_898871.1:p.Tyr195Cys
NR_134945.2:n.607A>G
NM_000056.5:c.584A>G NP_000047.1:p.Tyr195Cys