Canonical Allele Identifier: CA364658179

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80169027-C-G
• MyVariant Identifiers: chr6:g.80878744C>G (hg19) ; chr6:g.80169027C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80169027C>G , CM000668.2:g.80169027C>G	GRCh38
NC_000006.11:g.80878744C>G , CM000668.1:g.80878744C>G	GRCh37
NC_000006.10:g.80935463C>G	NCBI36
NG_009775.1:g.67401C>G
NG_009775.2:g.67401C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.630C>G MANE Select	ENSP00000318351.5:p.Ile210Met
ENST00000320393.8:c.630C>G	ENSP00000318351.5:p.Ile210Met
ENST00000356489.9:c.630C>G	ENSP00000348880.5:p.Ile210Met
ENST00000369760.8:c.630C>G	ENSP00000358775.4:p.Ile210Met
NM_000056.3:c.630C>G	NP_000047.1:p.Ile210Met
NM_183050.2:c.630C>G	NP_898871.1:p.Ile210Met
XM_005248756.3:c.630C>G	XP_005248813.1:p.Ile210Met
XM_006715542.2:c.420C>G	XP_006715605.1:p.Ile140Met
XM_011536023.1:c.630C>G	XP_011534325.1:p.Ile210Met
XM_011536024.1:c.630C>G	XP_011534326.1:p.Ile210Met
XM_011536025.1:c.630C>G	XP_011534327.1:p.Ile210Met
XM_011536026.1:c.420C>G	XP_011534328.1:p.Ile140Met
XM_011536027.1:c.630C>G	XP_011534329.1:p.Ile210Met
NM_000056.4:c.630C>G	NP_000047.1:p.Ile210Met
NM_001318975.1:c.420C>G	NP_001305904.1:p.Ile140Met
NM_183050.3:c.630C>G	NP_898871.1:p.Ile210Met
NR_134945.1:n.714C>G
XM_005248756.5:c.630C>G	XP_005248813.1:p.Ile210Met
XM_011536023.3:c.630C>G	XP_011534325.1:p.Ile210Met
XM_011536024.3:c.630C>G	XP_011534326.1:p.Ile210Met
XM_011536025.3:c.630C>G	XP_011534327.1:p.Ile210Met
XR_001743546.2:n.660C>G
XR_001743547.2:n.660C>G
XR_001743548.2:n.660C>G
XR_001743549.2:n.660C>G
XR_002956292.1:n.660C>G
NM_183050.4:c.630C>G MANE Select	NP_898871.1:p.Ile210Met
NR_134945.2:n.653C>G
NM_000056.5:c.630C>G	NP_000047.1:p.Ile210Met