Canonical Allele Identifier: CA364658493

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80171294A>G , CM000668.2:g.80171294A>G	GRCh38
NC_000006.11:g.80881011A>G , CM000668.1:g.80881011A>G	GRCh37
NC_000006.10:g.80937730A>G	NCBI36
NG_009775.1:g.69668A>G
NG_009775.2:g.69668A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_183050.4:c.646A>G MANE Select	NP_898871.1:p.Arg216Gly
ENST00000320393.9:c.646A>G MANE Select	ENSP00000318351.5:p.Arg216Gly
NM_000056.3:c.646A>G	NP_000047.1:p.Arg216Gly
NM_000056.4:c.646A>G	NP_000047.1:p.Arg216Gly
NM_000056.5:c.646A>G	NP_000047.1:p.Arg216Gly
NM_001318975.1:c.436A>G	NP_001305904.1:p.Arg146Gly
NM_183050.2:c.646A>G	NP_898871.1:p.Arg216Gly
NM_183050.3:c.646A>G	NP_898871.1:p.Arg216Gly
NR_134945.1:n.824A>G
NR_134945.2:n.763A>G
ENST00000320393.8:c.646A>G	ENSP00000318351.5:p.Arg216Gly
ENST00000356489.9:c.646A>G	ENSP00000348880.5:p.Arg216Gly
XM_005248756.3:c.646A>G	XP_005248813.1:p.Arg216Gly
XM_005248756.5:c.646A>G	XP_005248813.1:p.Arg216Gly
XM_006715542.2:c.436A>G	XP_006715605.1:p.Arg146Gly
XM_011536023.1:c.646A>G	XP_011534325.1:p.Arg216Gly
XM_011536023.3:c.646A>G	XP_011534325.1:p.Arg216Gly
XM_011536024.1:c.646A>G	XP_011534326.1:p.Arg216Gly
XM_011536024.3:c.646A>G	XP_011534326.1:p.Arg216Gly
XM_011536025.1:c.646A>G	XP_011534327.1:p.Arg216Gly
XM_011536025.3:c.646A>G	XP_011534327.1:p.Arg216Gly
XM_011536026.1:c.436A>G	XP_011534328.1:p.Arg146Gly
XR_001743546.2:n.676A>G
XR_001743547.2:n.676A>G
XR_001743548.2:n.676A>G
XR_001743549.2:n.676A>G
XR_002956292.1:n.676A>G