Canonical Allele Identifier: CA3902760

Gene: BCKDHB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80200990C>G , CM000668.2:g.80200990C>G	GRCh38
NC_000006.11:g.80910707C>G , CM000668.1:g.80910707C>G	GRCh37
NC_000006.10:g.80967426C>G	NCBI36
NG_009775.1:g.99364C>G
NG_009775.2:g.99364C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.799C>G MANE Select	ENSP00000318351.5:p.Gln267Glu
ENST00000320393.8:c.799C>G	ENSP00000318351.5:p.Gln267Glu
ENST00000356489.9:c.799C>G	ENSP00000348880.5:p.Gln267Glu
NM_000056.3:c.799C>G	NP_000047.1:p.Gln267Glu
NM_183050.2:c.799C>G	NP_898871.1:p.Gln267Glu
XM_005248756.3:c.799C>G	XP_005248813.1:p.Gln267Glu
XM_006715542.2:c.589C>G	XP_006715605.1:p.Gln197Glu
XM_011536023.1:c.799C>G	XP_011534325.1:p.Gln267Glu
XM_011536024.1:c.799C>G	XP_011534326.1:p.Gln267Glu
XM_011536025.1:c.799C>G	XP_011534327.1:p.Gln267Glu
XM_011536026.1:c.589C>G	XP_011534328.1:p.Gln197Glu
NM_000056.4:c.799C>G	NP_000047.1:p.Gln267Glu
NM_001318975.1:c.589C>G	NP_001305904.1:p.Gln197Glu
NM_183050.3:c.799C>G	NP_898871.1:p.Gln267Glu
NR_134945.1:n.977C>G
XM_005248756.5:c.799C>G	XP_005248813.1:p.Gln267Glu
XM_011536023.3:c.799C>G	XP_011534325.1:p.Gln267Glu
XM_011536024.3:c.799C>G	XP_011534326.1:p.Gln267Glu
XM_011536025.3:c.799C>G	XP_011534327.1:p.Gln267Glu
XR_001743546.2:n.829C>G
XR_001743547.2:n.829C>G
XR_001743548.2:n.829C>G
XR_001743549.2:n.829C>G
XR_002956292.1:n.829C>G
NM_183050.4:c.799C>G MANE Select	NP_898871.1:p.Gln267Glu
NR_134945.2:n.916C>G
NM_000056.5:c.799C>G	NP_000047.1:p.Gln267Glu