Canonical Allele Identifier: CA568407220

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1461018572
• gnomAD v2: 6-81053536-A-G
• gnomAD v3: 6-80343819-A-G
• gnomAD v4: 6-80343819-A-G
• MyVariant Identifiers: chr6:g.81053536A>G (hg19) ; chr6:g.80343819A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343819A>G , CM000668.2:g.80343819A>G	GRCh38
NC_000006.11:g.81053536A>G , CM000668.1:g.81053536A>G	GRCh37
NC_000006.10:g.81110255A>G	NCBI36
NG_009775.1:g.242193A>G
NG_009775.2:g.242193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*15A>G MANE Select	ENSP00000318351.5:n.*15A>G
ENST00000320393.8:c.*15A>G	ENSP00000318351.5:n.*15A>G
ENST00000356489.9:c.*8+7A>G	ENSP00000348880.5:n.*8+7A>G
ENST00000491328.1:n.242+7A>G
NM_000056.3:c.*8+7A>G	NP_000047.1:n.*8+7A>G
NM_183050.2:c.*15A>G	NP_898871.1:n.*15A>G
NM_000056.4:c.*8+7A>G	NP_000047.1:n.*8+7A>G
NM_001318975.1:c.*15A>G	NP_001305904.1:n.*15A>G
NM_183050.3:c.*15A>G	NP_898871.1:n.*15A>G
NR_134945.1:n.1372A>G
XM_011536024.3:c.*200A>G	XP_011534326.1:n.*200A>G
XR_001743546.2:n.1068+70598A>G
XR_001743547.2:n.1068+70598A>G
XR_001743548.2:n.1068+70598A>G
XR_001743549.2:n.1068+70598A>G
XR_002956292.1:n.1068+70598A>G
NM_183050.4:c.*15A>G MANE Select	NP_898871.1:n.*15A>G
NR_134945.2:n.1311A>G
NM_000056.5:c.*8+7A>G	NP_000047.1:n.*8+7A>G