Canonical Allele Identifier: CA483257154

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31843351G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269214G>A , CM000675.2:g.31269214G>A	GRCh38
NC_000013.10:g.31843351G>A , CM000675.1:g.31843351G>A	GRCh37
NC_000013.9:g.30741351G>A	NCBI36
NG_011732.1:g.74240G>A
NG_011732.2:g.74240G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.597G>A MANE Select	ENSP00000343002.4:p.Lys199=
ENST00000343307.4:c.597G>A	ENSP00000343002.4:p.Lys199=
ENST00000461652.2:n.212G>A
NM_194318.3:c.597G>A	NP_919299.3:p.Lys199=
XM_006719768.2:c.540G>A	XP_006719831.1:p.Lys180=
XM_011534936.1:c.597G>A	XP_011533238.1:p.Lys199=
XM_011534937.1:c.597G>A	XP_011533239.1:p.Lys199=
XM_011534938.1:c.450G>A	XP_011533240.1:p.Lys150=
XR_941500.1:n.696G>A
XR_941501.1:n.696G>A
XM_006719768.3:c.540G>A	XP_006719831.1:p.Lys180=
XM_011534938.2:c.450G>A	XP_011533240.1:p.Lys150=
XM_017020395.1:c.450G>A	XP_016875884.1:p.Lys150=
NM_194318.4:c.597G>A MANE Select	NP_919299.3:p.Lys199=