Canonical Allele Identifier: CA10605114

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80129176A>T , CM000668.2:g.80129176A>T	GRCh38
NC_000006.11:g.80838893A>T , CM000668.1:g.80838893A>T	GRCh37
NC_000006.10:g.80895612A>T	NCBI36
NG_009775.1:g.27550A>T
NG_009775.2:g.27550A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_183050.4:c.290A>T MANE Select	NP_898871.1:p.Asp97Val
ENST00000320393.9:c.290A>T MANE Select	ENSP00000318351.5:p.Asp97Val
NM_000056.3:c.290A>T	NP_000047.1:p.Asp97Val
NM_000056.4:c.290A>T	NP_000047.1:p.Asp97Val
NM_000056.5:c.290A>T	NP_000047.1:p.Asp97Val
NM_001318975.1:c.80A>T	NP_001305904.1:p.Asp27Val
NM_183050.2:c.290A>T	NP_898871.1:p.Asp97Val
NM_183050.3:c.290A>T	NP_898871.1:p.Asp97Val
NR_134945.1:n.374A>T
NR_134945.2:n.313A>T
ENST00000320393.8:c.290A>T	ENSP00000318351.5:p.Asp97Val
ENST00000356489.9:c.290A>T	ENSP00000348880.5:p.Asp97Val
ENST00000369760.8:c.290A>T	ENSP00000358775.4:p.Asp97Val
ENST00000486968.1:n.204A>T
XM_005248756.3:c.290A>T	XP_005248813.1:p.Asp97Val
XM_005248756.5:c.290A>T	XP_005248813.1:p.Asp97Val
XM_006715542.2:c.80A>T	XP_006715605.1:p.Asp27Val
XM_011536023.1:c.290A>T	XP_011534325.1:p.Asp97Val
XM_011536023.3:c.290A>T	XP_011534325.1:p.Asp97Val
XM_011536024.1:c.290A>T	XP_011534326.1:p.Asp97Val
XM_011536024.3:c.290A>T	XP_011534326.1:p.Asp97Val
XM_011536025.1:c.290A>T	XP_011534327.1:p.Asp97Val
XM_011536025.3:c.290A>T	XP_011534327.1:p.Asp97Val
XM_011536026.1:c.80A>T	XP_011534328.1:p.Asp27Val
XM_011536027.1:c.290A>T	XP_011534329.1:p.Asp97Val
XR_001743546.2:n.320A>T
XR_001743547.2:n.320A>T
XR_001743548.2:n.320A>T
XR_001743549.2:n.320A>T
XR_002956292.1:n.320A>T