Canonical Allele Identifier: CA224349

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 96611
• ClinVar RCV Id: RCV000180019 ; RCV000790653
• dbSNP Id: rs398124596
• MyVariant Identifiers: chr6:g.80910750T>G (hg19) ; chr6:g.80201033T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80201033T>G , CM000668.2:g.80201033T>G	GRCh38
NC_000006.11:g.80910750T>G , CM000668.1:g.80910750T>G	GRCh37
NC_000006.10:g.80967469T>G	NCBI36
NG_009775.1:g.99407T>G
NG_009775.2:g.99407T>G

Transcript Alleles

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