Canonical Allele Identifier: CA1640937761

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168919T= , CM000668.2:g.80168919T=	GRCh38
NC_000006.11:g.80878636T= , CM000668.1:g.80878636T=	GRCh37
NC_000006.10:g.80935355T=	NCBI36
NG_009775.1:g.67293T=
NG_009775.2:g.67293T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.522T= MANE Select	ENSP00000318351.5:p.Leu174=
ENST00000320393.8:c.522T=	ENSP00000318351.5:p.Leu174=
ENST00000356489.9:c.522T=	ENSP00000348880.5:p.Leu174=
ENST00000369760.8:c.522T=	ENSP00000358775.4:p.Leu174=
NM_000056.3:c.522T=	NP_000047.1:p.Leu174=
NM_183050.2:c.522T=	NP_898871.1:p.Leu174=
XM_005248756.3:c.522T=	XP_005248813.1:p.Leu174=
XM_006715542.2:c.312T=	XP_006715605.1:p.Leu104=
XM_011536023.1:c.522T=	XP_011534325.1:p.Leu174=
XM_011536024.1:c.522T=	XP_011534326.1:p.Leu174=
XM_011536025.1:c.522T=	XP_011534327.1:p.Leu174=
XM_011536026.1:c.312T=	XP_011534328.1:p.Leu104=
XM_011536027.1:c.522T=	XP_011534329.1:p.Leu174=
NM_000056.4:c.522T=	NP_000047.1:p.Leu174=
NM_001318975.1:c.312T=	NP_001305904.1:p.Leu104=
NM_183050.3:c.522T=	NP_898871.1:p.Leu174=
NR_134945.1:n.606T=
XM_005248756.5:c.522T=	XP_005248813.1:p.Leu174=
XM_011536023.3:c.522T=	XP_011534325.1:p.Leu174=
XM_011536024.3:c.522T=	XP_011534326.1:p.Leu174=
XM_011536025.3:c.522T=	XP_011534327.1:p.Leu174=
XR_001743546.2:n.552T=
XR_001743547.2:n.552T=
XR_001743548.2:n.552T=
XR_001743549.2:n.552T=
XR_002956292.1:n.552T=
NM_183050.4:c.522T= MANE Select	NP_898871.1:p.Leu174=
NR_134945.2:n.545T=
NM_000056.5:c.522T=	NP_000047.1:p.Leu174=