Canonical Allele Identifier: CA1641009799

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343772T= , CM000668.2:g.80343772T=	GRCh38
NC_000006.11:g.81053489T= , CM000668.1:g.81053489T=	GRCh37
NC_000006.10:g.81110208T=	NCBI36
NG_009775.1:g.242146T=
NG_009775.2:g.242146T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1147T= MANE Select	ENSP00000318351.5:p.Tyr383=
ENST00000320393.8:c.1147T=	ENSP00000318351.5:p.Tyr383=
ENST00000356489.9:c.1147T=	ENSP00000348880.5:p.Tyr383=
ENST00000491328.1:n.202T=
NM_000056.3:c.1147T=	NP_000047.1:p.Tyr383=
NM_183050.2:c.1147T=	NP_898871.1:p.Tyr383=
XM_006715542.2:c.937T=	XP_006715605.1:p.Tyr313=
XM_011536024.1:c.*153T=	XP_011534326.1:n.*153T=
XM_011536026.1:c.937T=	XP_011534328.1:p.Tyr313=
NM_000056.4:c.1147T=	NP_000047.1:p.Tyr383=
NM_001318975.1:c.937T=	NP_001305904.1:p.Tyr313=
NM_183050.3:c.1147T=	NP_898871.1:p.Tyr383=
NR_134945.1:n.1325T=
XM_011536024.3:c.*153T=	XP_011534326.1:n.*153T=
XR_001743546.2:n.1068+70551T=
XR_001743547.2:n.1068+70551T=
XR_001743548.2:n.1068+70551T=
XR_001743549.2:n.1068+70551T=
XR_002956292.1:n.1068+70551T=
NM_183050.4:c.1147T= MANE Select	NP_898871.1:p.Tyr383=
NR_134945.2:n.1264T=
NM_000056.5:c.1147T=	NP_000047.1:p.Tyr383=