Canonical Allele Identifier: CA354913

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 224056
• ClinVar RCV Id: RCV000209460
• dbSNP Id: rs869312127
• gnomAD v4: 6-80127545-A-G
• MyVariant Identifiers: chr6:g.80837262A>G (hg19) ; chr6:g.80127545A>G (hg38)
• PubMed: PMID:26257134

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80127545A>G , CM000668.2:g.80127545A>G	GRCh38
NC_000006.11:g.80837262A>G , CM000668.1:g.80837262A>G	GRCh37
NC_000006.10:g.80893981A>G	NCBI36
NG_009775.1:g.25919A>G
NG_009775.2:g.25919A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.197-2A>G MANE Select	ENSP00000318351.5:n.197-2A>G
ENST00000320393.8:c.197-2A>G	ENSP00000318351.5:n.197-2A>G
ENST00000356489.9:c.197-2A>G	ENSP00000348880.5:n.197-2A>G
ENST00000369760.8:c.197-2A>G	ENSP00000358775.4:n.197-2A>G
ENST00000486968.1:n.111-2A>G
NM_000056.3:c.197-2A>G	NP_000047.1:n.197-2A>G
NM_183050.2:c.197-2A>G	NP_898871.1:n.197-2A>G
XM_005248756.3:c.197-2A>G	XP_005248813.1:n.197-2A>G
XM_006715542.2:c.-14-2A>G	XP_006715605.1:n.-14-2A>G
XM_011536023.1:c.197-2A>G	XP_011534325.1:n.197-2A>G
XM_011536024.1:c.197-2A>G	XP_011534326.1:n.197-2A>G
XM_011536025.1:c.197-2A>G	XP_011534327.1:n.197-2A>G
XM_011536026.1:c.-14-2A>G	XP_011534328.1:n.-14-2A>G
XM_011536027.1:c.197-2A>G	XP_011534329.1:n.197-2A>G
NM_000056.4:c.197-2A>G	NP_000047.1:n.197-2A>G
NM_001318975.1:c.-14-2A>G	NP_001305904.1:n.-14-2A>G
NM_183050.3:c.197-2A>G	NP_898871.1:n.197-2A>G
NR_134945.1:n.281-2A>G
XM_005248756.5:c.197-2A>G	XP_005248813.1:n.197-2A>G
XM_011536023.3:c.197-2A>G	XP_011534325.1:n.197-2A>G
XM_011536024.3:c.197-2A>G	XP_011534326.1:n.197-2A>G
XM_011536025.3:c.197-2A>G	XP_011534327.1:n.197-2A>G
XR_001743546.2:n.227-2A>G
XR_001743547.2:n.227-2A>G
XR_001743548.2:n.227-2A>G
XR_001743549.2:n.227-2A>G
XR_002956292.1:n.227-2A>G
NM_183050.4:c.197-2A>G MANE Select	NP_898871.1:n.197-2A>G
NR_134945.2:n.220-2A>G
NM_000056.5:c.197-2A>G	NP_000047.1:n.197-2A>G