Canonical Allele Identifier: CA2082318265

Gene: B3GLCT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269266T= , CM000675.2:g.31269266T=	GRCh38
NC_000013.10:g.31843403T= , CM000675.1:g.31843403T=	GRCh37
NC_000013.9:g.30741403T=	NCBI36
NG_011732.1:g.74292T=
NG_011732.2:g.74292T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.649T= MANE Select	ENSP00000343002.4:p.Leu217=
ENST00000343307.4:c.649T=	ENSP00000343002.4:p.Leu217=
ENST00000461652.2:n.264T=
NM_194318.3:c.649T=	NP_919299.3:p.Leu217=
XM_006719768.2:c.592T=	XP_006719831.1:p.Leu198=
XM_011534936.1:c.649T=	XP_011533238.1:p.Leu217=
XM_011534937.1:c.649T=	XP_011533239.1:p.Leu217=
XM_011534938.1:c.502T=	XP_011533240.1:p.Leu168=
XR_941500.1:n.748T=
XR_941501.1:n.748T=
XM_006719768.3:c.592T=	XP_006719831.1:p.Leu198=
XM_011534938.2:c.502T=	XP_011533240.1:p.Leu168=
XM_017020395.1:c.502T=	XP_016875884.1:p.Leu168=
NM_194318.4:c.649T= MANE Select	NP_919299.3:p.Leu217=