Canonical Allele Identifier: CA483373385

Gene: B3GLCT

Linked Data

• dbSNP Id: rs1593318556
• MyVariant Identifiers: chr13:g.31891817A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317680A>G , CM000675.2:g.31317680A>G	GRCh38
NC_000013.10:g.31891817A>G , CM000675.1:g.31891817A>G	GRCh37
NC_000013.9:g.30789817A>G	NCBI36
NG_011732.1:g.122706A>G
NG_011732.2:g.122706A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343307.5:c.1179A>G MANE Select	ENSP00000343002.4:p.Gly393=
ENST00000343307.4:c.1179A>G	ENSP00000343002.4:p.Gly393=
NM_194318.3:c.1179A>G	NP_919299.3:p.Gly393=
XM_006719768.2:c.1122A>G	XP_006719831.1:p.Gly374=
XM_011534936.1:c.1065-6071A>G	XP_011533238.1:n.1065-6071A>G
XM_011534937.1:c.1059A>G	XP_011533239.1:p.Gly353=
XM_011534938.1:c.1032A>G	XP_011533240.1:p.Gly344=
XM_006719768.3:c.1122A>G	XP_006719831.1:p.Gly374=
XM_011534938.2:c.1032A>G	XP_011533240.1:p.Gly344=
XM_017020395.1:c.1032A>G	XP_016875884.1:p.Gly344=
NM_194318.4:c.1179A>G MANE Select	NP_919299.3:p.Gly393=