Canonical Allele Identifier: CA697295026

Gene: B3GLCT

Linked Data

• dbSNP Id: rs1309976535
• gnomAD v4: 13-31269181-G-A
• MyVariant Identifiers: chr13:g.31843318G>A (hg19) ; chr13:g.31269181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269181G>A , CM000675.2:g.31269181G>A	GRCh38
NC_000013.10:g.31843318G>A , CM000675.1:g.31843318G>A	GRCh37
NC_000013.9:g.30741318G>A	NCBI36
NG_011732.1:g.74207G>A
NG_011732.2:g.74207G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.597-33G>A MANE Select	ENSP00000343002.4:n.597-33G>A
ENST00000343307.4:c.597-33G>A	ENSP00000343002.4:n.597-33G>A
ENST00000461652.2:n.212-33G>A
NM_194318.3:c.597-33G>A	NP_919299.3:n.597-33G>A
XM_006719768.2:c.540-33G>A	XP_006719831.1:n.540-33G>A
XM_011534936.1:c.597-33G>A	XP_011533238.1:n.597-33G>A
XM_011534937.1:c.597-33G>A	XP_011533239.1:n.597-33G>A
XM_011534938.1:c.450-33G>A	XP_011533240.1:n.450-33G>A
XR_941500.1:n.696-33G>A
XR_941501.1:n.696-33G>A
XM_006719768.3:c.540-33G>A	XP_006719831.1:n.540-33G>A
XM_011534938.2:c.450-33G>A	XP_011533240.1:n.450-33G>A
XM_017020395.1:c.450-33G>A	XP_016875884.1:n.450-33G>A
NM_194318.4:c.597-33G>A MANE Select	NP_919299.3:n.597-33G>A