Canonical Allele Identifier: CA3902769

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 370274
• ClinVar RCV Id: RCV000411637 ; RCV000578568
• dbSNP Id: rs760538465
• ExAC: 6:80910749 G / T
• MyVariant Identifiers: chr6:g.80910749G>T (hg19) ; chr6:g.80201032G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80201032G>T , CM000668.2:g.80201032G>T	GRCh38
NC_000006.11:g.80910749G>T , CM000668.1:g.80910749G>T	GRCh37
NC_000006.10:g.80967468G>T	NCBI36
NG_009775.1:g.99406G>T
NG_009775.2:g.99406G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.840+1G>T MANE Select	ENSP00000318351.5:n.840+1G>T
ENST00000320393.8:c.840+1G>T	ENSP00000318351.5:n.840+1G>T
ENST00000356489.9:c.840+1G>T	ENSP00000348880.5:n.840+1G>T
NM_000056.3:c.840+1G>T	NP_000047.1:n.840+1G>T
NM_183050.2:c.840+1G>T	NP_898871.1:n.840+1G>T
XM_005248756.3:c.840+1G>T	XP_005248813.1:n.840+1G>T
XM_006715542.2:c.630+1G>T	XP_006715605.1:n.630+1G>T
XM_011536023.1:c.840+1G>T	XP_011534325.1:n.840+1G>T
XM_011536024.1:c.840+1G>T	XP_011534326.1:n.840+1G>T
XM_011536025.1:c.840+1G>T	XP_011534327.1:n.840+1G>T
XM_011536026.1:c.630+1G>T	XP_011534328.1:n.630+1G>T
NM_000056.4:c.840+1G>T	NP_000047.1:n.840+1G>T
NM_001318975.1:c.630+1G>T	NP_001305904.1:n.630+1G>T
NM_183050.3:c.840+1G>T	NP_898871.1:n.840+1G>T
NR_134945.1:n.1018+1G>T
XM_005248756.5:c.840+1G>T	XP_005248813.1:n.840+1G>T
XM_011536023.3:c.840+1G>T	XP_011534325.1:n.840+1G>T
XM_011536024.3:c.840+1G>T	XP_011534326.1:n.840+1G>T
XM_011536025.3:c.840+1G>T	XP_011534327.1:n.840+1G>T
XR_001743546.2:n.870+1G>T
XR_001743547.2:n.870+1G>T
XR_001743548.2:n.870+1G>T
XR_001743549.2:n.870+1G>T
XR_002956292.1:n.870+1G>T
NM_183050.4:c.840+1G>T MANE Select	NP_898871.1:n.840+1G>T
NR_134945.2:n.957+1G>T
NM_000056.5:c.840+1G>T	NP_000047.1:n.840+1G>T