Canonical Allele Identifier: CA354928

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 224060
• ClinVar RCV Id: RCV000209826
• dbSNP Id: rs869312130
• MyVariant Identifiers: chr6:g.80877452T>A (hg19) ; chr6:g.80167735T>A (hg38)
• PubMed: PMID:22593002 ; PMID:26257134

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80167735T>A , CM000668.2:g.80167735T>A	GRCh38
NC_000006.11:g.80877452T>A , CM000668.1:g.80877452T>A	GRCh37
NC_000006.10:g.80934171T>A	NCBI36
NG_009775.1:g.66109T>A
NG_009775.2:g.66109T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.401T>A MANE Select	ENSP00000318351.5:p.Ile134Asn
ENST00000320393.8:c.401T>A	ENSP00000318351.5:p.Ile134Asn
ENST00000356489.9:c.401T>A	ENSP00000348880.5:p.Ile134Asn
ENST00000369760.8:c.401T>A	ENSP00000358775.4:p.Ile134Asn
NM_000056.3:c.401T>A	NP_000047.1:p.Ile134Asn
NM_183050.2:c.401T>A	NP_898871.1:p.Ile134Asn
XM_005248756.3:c.401T>A	XP_005248813.1:p.Ile134Asn
XM_006715542.2:c.191T>A	XP_006715605.1:p.Ile64Asn
XM_011536023.1:c.401T>A	XP_011534325.1:p.Ile134Asn
XM_011536024.1:c.401T>A	XP_011534326.1:p.Ile134Asn
XM_011536025.1:c.401T>A	XP_011534327.1:p.Ile134Asn
XM_011536026.1:c.191T>A	XP_011534328.1:p.Ile64Asn
XM_011536027.1:c.401T>A	XP_011534329.1:p.Ile134Asn
NM_000056.4:c.401T>A	NP_000047.1:p.Ile134Asn
NM_001318975.1:c.191T>A	NP_001305904.1:p.Ile64Asn
NM_183050.3:c.401T>A	NP_898871.1:p.Ile134Asn
NR_134945.1:n.485T>A
XM_005248756.5:c.401T>A	XP_005248813.1:p.Ile134Asn
XM_011536023.3:c.401T>A	XP_011534325.1:p.Ile134Asn
XM_011536024.3:c.401T>A	XP_011534326.1:p.Ile134Asn
XM_011536025.3:c.401T>A	XP_011534327.1:p.Ile134Asn
XR_001743546.2:n.431T>A
XR_001743547.2:n.431T>A
XR_001743548.2:n.431T>A
XR_001743549.2:n.431T>A
XR_002956292.1:n.431T>A
NM_183050.4:c.401T>A MANE Select	NP_898871.1:p.Ile134Asn
NR_134945.2:n.424T>A
NM_000056.5:c.401T>A	NP_000047.1:p.Ile134Asn