Canonical Allele Identifier: CA224357
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96617
ClinVar RCV Id: RCV000180384
dbSNP Id: rs398124600
MyVariant Identifiers: chr6:g.80912880T>G (hg19) chr6:g.80203163T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80203163T>G , CM000668.2:g.80203163T>G GRCh38
NC_000006.11:g.80912880T>G , CM000668.1:g.80912880T>G GRCh37
NC_000006.10:g.80969599T>G NCBI36
NG_009775.1:g.101537T>G
NG_009775.2:g.101537T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320393.9:c.902T>G MANE Select ENSP00000318351.5:p.Val301Gly
ENST00000320393.8:c.902T>G ENSP00000318351.5:p.Val301Gly
ENST00000356489.9:c.902T>G ENSP00000348880.5:p.Val301Gly
ENST00000468520.1:n.62T>G
NM_000056.3:c.902T>G NP_000047.1:p.Val301Gly
NM_183050.2:c.902T>G NP_898871.1:p.Val301Gly
XM_005248756.3:c.902T>G XP_005248813.1:p.Val301Gly
XM_006715542.2:c.692T>G XP_006715605.1:p.Val231Gly
XM_011536023.1:c.902T>G XP_011534325.1:p.Val301Gly
XM_011536024.1:c.902T>G XP_011534326.1:p.Val301Gly
XM_011536025.1:c.902T>G XP_011534327.1:p.Val301Gly
XM_011536026.1:c.692T>G XP_011534328.1:p.Val231Gly
NM_000056.4:c.902T>G NP_000047.1:p.Val301Gly
NM_001318975.1:c.692T>G NP_001305904.1:p.Val231Gly
NM_183050.3:c.902T>G NP_898871.1:p.Val301Gly
NR_134945.1:n.1080T>G
XM_005248756.5:c.902T>G XP_005248813.1:p.Val301Gly
XM_011536023.3:c.902T>G XP_011534325.1:p.Val301Gly
XM_011536024.3:c.902T>G XP_011534326.1:p.Val301Gly
XM_011536025.3:c.902T>G XP_011534327.1:p.Val301Gly
XR_001743546.2:n.932T>G
XR_001743547.2:n.932T>G
XR_001743548.2:n.932T>G
XR_001743549.2:n.932T>G
XR_002956292.1:n.932T>G
NM_183050.4:c.902T>G MANE Select NP_898871.1:p.Val301Gly
NR_134945.2:n.1019T>G
NM_000056.5:c.902T>G NP_000047.1:p.Val301Gly
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