Canonical Allele Identifier: CA1640952036

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80200939G= , CM000668.2:g.80200939G=	GRCh38
NC_000006.11:g.80910656G= , CM000668.1:g.80910656G=	GRCh37
NC_000006.10:g.80967375G=	NCBI36
NG_009775.1:g.99313G=
NG_009775.2:g.99313G=

Transcript Alleles

HGVS	Amino-acid Change
NM_183050.4:c.748G= MANE Select	NP_898871.1:p.Glu250=
ENST00000320393.9:c.748G= MANE Select	ENSP00000318351.5:p.Glu250=
NM_000056.3:c.748G=	NP_000047.1:p.Glu250=
NM_000056.4:c.748G=	NP_000047.1:p.Glu250=
NM_000056.5:c.748G=	NP_000047.1:p.Glu250=
NM_001318975.1:c.538G=	NP_001305904.1:p.Glu180=
NM_183050.2:c.748G=	NP_898871.1:p.Glu250=
NM_183050.3:c.748G=	NP_898871.1:p.Glu250=
NR_134945.1:n.926G=
NR_134945.2:n.865G=
ENST00000320393.8:c.748G=	ENSP00000318351.5:p.Glu250=
ENST00000356489.9:c.748G=	ENSP00000348880.5:p.Glu250=
XM_005248756.3:c.748G=	XP_005248813.1:p.Glu250=
XM_005248756.5:c.748G=	XP_005248813.1:p.Glu250=
XM_006715542.2:c.538G=	XP_006715605.1:p.Glu180=
XM_011536023.1:c.748G=	XP_011534325.1:p.Glu250=
XM_011536023.3:c.748G=	XP_011534325.1:p.Glu250=
XM_011536024.1:c.748G=	XP_011534326.1:p.Glu250=
XM_011536024.3:c.748G=	XP_011534326.1:p.Glu250=
XM_011536025.1:c.748G=	XP_011534327.1:p.Glu250=
XM_011536025.3:c.748G=	XP_011534327.1:p.Glu250=
XM_011536026.1:c.538G=	XP_011534328.1:p.Glu180=
XR_001743546.2:n.778G=
XR_001743547.2:n.778G=
XR_001743548.2:n.778G=
XR_001743549.2:n.778G=
XR_002956292.1:n.778G=