Canonical Allele Identifier: CA312365

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 203639
• ClinVar RCV Id: RCV000185797 ; RCV000209023
• dbSNP Id: rs796051939
• MyVariant Identifiers: chr6:g.80982922T>A (hg19) ; chr6:g.80273205T>A (hg38)
• PubMed: PMID:26257134

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80273205T>A , CM000668.2:g.80273205T>A	GRCh38
NC_000006.11:g.80982922T>A , CM000668.1:g.80982922T>A	GRCh37
NC_000006.10:g.81039641T>A	NCBI36
NG_009775.1:g.171579T>A
NG_009775.2:g.171579T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1022T>A MANE Select	ENSP00000318351.5:p.Ile341Asn
ENST00000320393.8:c.1022T>A	ENSP00000318351.5:p.Ile341Asn
ENST00000356489.9:c.1022T>A	ENSP00000348880.5:p.Ile341Asn
NM_000056.3:c.1022T>A	NP_000047.1:p.Ile341Asn
NM_183050.2:c.1022T>A	NP_898871.1:p.Ile341Asn
XM_005248756.3:c.1022T>A	XP_005248813.1:p.Ile341Asn
XM_006715542.2:c.812T>A	XP_006715605.1:p.Ile271Asn
XM_011536023.1:c.1022T>A	XP_011534325.1:p.Ile341Asn
XM_011536024.1:c.1022T>A	XP_011534326.1:p.Ile341Asn
XM_011536025.1:c.1022T>A	XP_011534327.1:p.Ile341Asn
XM_011536026.1:c.812T>A	XP_011534328.1:p.Ile271Asn
NM_000056.4:c.1022T>A	NP_000047.1:p.Ile341Asn
NM_001318975.1:c.812T>A	NP_001305904.1:p.Ile271Asn
NM_183050.3:c.1022T>A	NP_898871.1:p.Ile341Asn
NR_134945.1:n.1200T>A
XM_005248756.5:c.1022T>A	XP_005248813.1:p.Ile341Asn
XM_011536023.3:c.1022T>A	XP_011534325.1:p.Ile341Asn
XM_011536024.3:c.1022T>A	XP_011534326.1:p.Ile341Asn
XM_011536025.3:c.1022T>A	XP_011534327.1:p.Ile341Asn
XR_001743546.2:n.1052T>A
XR_001743547.2:n.1052T>A
XR_001743548.2:n.1052T>A
XR_001743549.2:n.1052T>A
XR_002956292.1:n.1052T>A
NM_183050.4:c.1022T>A MANE Select	NP_898871.1:p.Ile341Asn
NR_134945.2:n.1139T>A
NM_000056.5:c.1022T>A	NP_000047.1:p.Ile341Asn