Canonical Allele Identifier: CA224344

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 96610
• ClinVar RCV Id: RCV000082769 ; RCV003522925
• dbSNP Id: rs398124595
• MyVariant Identifiers: chr6:g.80910725A>C (hg19) ; chr6:g.80201008A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80201008A>C , CM000668.2:g.80201008A>C	GRCh38
NC_000006.11:g.80910725A>C , CM000668.1:g.80910725A>C	GRCh37
NC_000006.10:g.80967444A>C	NCBI36
NG_009775.1:g.99382A>C
NG_009775.2:g.99382A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.817A>C MANE Select	ENSP00000318351.5:p.Thr273Pro
ENST00000320393.8:c.817A>C	ENSP00000318351.5:p.Thr273Pro
ENST00000356489.9:c.817A>C	ENSP00000348880.5:p.Thr273Pro
NM_000056.3:c.817A>C	NP_000047.1:p.Thr273Pro
NM_183050.2:c.817A>C	NP_898871.1:p.Thr273Pro
XM_005248756.3:c.817A>C	XP_005248813.1:p.Thr273Pro
XM_006715542.2:c.607A>C	XP_006715605.1:p.Thr203Pro
XM_011536023.1:c.817A>C	XP_011534325.1:p.Thr273Pro
XM_011536024.1:c.817A>C	XP_011534326.1:p.Thr273Pro
XM_011536025.1:c.817A>C	XP_011534327.1:p.Thr273Pro
XM_011536026.1:c.607A>C	XP_011534328.1:p.Thr203Pro
NM_000056.4:c.817A>C	NP_000047.1:p.Thr273Pro
NM_001318975.1:c.607A>C	NP_001305904.1:p.Thr203Pro
NM_183050.3:c.817A>C	NP_898871.1:p.Thr273Pro
NR_134945.1:n.995A>C
XM_005248756.5:c.817A>C	XP_005248813.1:p.Thr273Pro
XM_011536023.3:c.817A>C	XP_011534325.1:p.Thr273Pro
XM_011536024.3:c.817A>C	XP_011534326.1:p.Thr273Pro
XM_011536025.3:c.817A>C	XP_011534327.1:p.Thr273Pro
XR_001743546.2:n.847A>C
XR_001743547.2:n.847A>C
XR_001743548.2:n.847A>C
XR_001743549.2:n.847A>C
XR_002956292.1:n.847A>C
NM_183050.4:c.817A>C MANE Select	NP_898871.1:p.Thr273Pro
NR_134945.2:n.934A>C
NM_000056.5:c.817A>C	NP_000047.1:p.Thr273Pro