Canonical Allele Identifier: CA354915

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 224061
• ClinVar RCV Id: RCV000209523
• dbSNP Id: rs869312131
• MyVariant Identifiers: chr6:g.80982864A>G (hg19) ; chr6:g.80273147A>G (hg38)
• PubMed: PMID:22593002 ; PMID:26257134

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80273147A>G , CM000668.2:g.80273147A>G	GRCh38
NC_000006.11:g.80982864A>G , CM000668.1:g.80982864A>G	GRCh37
NC_000006.10:g.81039583A>G	NCBI36
NG_009775.1:g.171521A>G
NG_009775.2:g.171521A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.964A>G MANE Select	ENSP00000318351.5:p.Thr322Ala
ENST00000320393.8:c.964A>G	ENSP00000318351.5:p.Thr322Ala
ENST00000356489.9:c.964A>G	ENSP00000348880.5:p.Thr322Ala
ENST00000468520.1:n.194A>G
NM_000056.3:c.964A>G	NP_000047.1:p.Thr322Ala
NM_183050.2:c.964A>G	NP_898871.1:p.Thr322Ala
XM_005248756.3:c.964A>G	XP_005248813.1:p.Thr322Ala
XM_006715542.2:c.754A>G	XP_006715605.1:p.Thr252Ala
XM_011536023.1:c.964A>G	XP_011534325.1:p.Thr322Ala
XM_011536024.1:c.964A>G	XP_011534326.1:p.Thr322Ala
XM_011536025.1:c.964A>G	XP_011534327.1:p.Thr322Ala
XM_011536026.1:c.754A>G	XP_011534328.1:p.Thr252Ala
NM_000056.4:c.964A>G	NP_000047.1:p.Thr322Ala
NM_001318975.1:c.754A>G	NP_001305904.1:p.Thr252Ala
NM_183050.3:c.964A>G	NP_898871.1:p.Thr322Ala
NR_134945.1:n.1142A>G
XM_005248756.5:c.964A>G	XP_005248813.1:p.Thr322Ala
XM_011536023.3:c.964A>G	XP_011534325.1:p.Thr322Ala
XM_011536024.3:c.964A>G	XP_011534326.1:p.Thr322Ala
XM_011536025.3:c.964A>G	XP_011534327.1:p.Thr322Ala
XR_001743546.2:n.994A>G
XR_001743547.2:n.994A>G
XR_001743548.2:n.994A>G
XR_001743549.2:n.994A>G
XR_002956292.1:n.994A>G
NM_183050.4:c.964A>G MANE Select	NP_898871.1:p.Thr322Ala
NR_134945.2:n.1081A>G
NM_000056.5:c.964A>G	NP_000047.1:p.Thr322Ala