Canonical Allele Identifier: CA224368

Gene: B3GLCT

Linked Data

• ClinVar Variation Id: 1264
• ClinVar RCV Id: RCV000001326 ; RCV000082789 ; RCV003398411
• dbSNP Id: rs80338851
• ExAC: 13:31843415 G / A
• gnomAD v2: 13-31843415-G-A
• gnomAD v3: 13-31269278-G-A
• gnomAD v4: 13-31269278-G-A
• MyVariant Identifiers: chr13:g.31843415G>A (hg19) ; chr13:g.31269278G>A (hg38)
• PubMed: PMID:16909395 ; PMID:18199743 ; PMID:18798333 ; PMID:19796186 ; PMID:20301637 ; PMID:23161355 ; PMID:23889335 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269278G>A , CM000675.2:g.31269278G>A	GRCh38
NC_000013.10:g.31843415G>A , CM000675.1:g.31843415G>A	GRCh37
NC_000013.9:g.30741415G>A	NCBI36
NG_011732.1:g.74304G>A
NG_011732.2:g.74304G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.660+1G>A MANE Select	ENSP00000343002.4:n.660+1G>A
ENST00000343307.4:c.660+1G>A	ENSP00000343002.4:n.660+1G>A
ENST00000461652.2:n.275+1G>A
NM_194318.3:c.660+1G>A	NP_919299.3:n.660+1G>A
XM_006719768.2:c.603+1G>A	XP_006719831.1:n.603+1G>A
XM_011534936.1:c.660+1G>A	XP_011533238.1:n.660+1G>A
XM_011534937.1:c.660+1G>A	XP_011533239.1:n.660+1G>A
XM_011534938.1:c.513+1G>A	XP_011533240.1:n.513+1G>A
XR_941500.1:n.759+1G>A
XR_941501.1:n.759+1G>A
XM_006719768.3:c.603+1G>A	XP_006719831.1:n.603+1G>A
XM_011534938.2:c.513+1G>A	XP_011533240.1:n.513+1G>A
XM_017020395.1:c.513+1G>A	XP_016875884.1:n.513+1G>A
NM_194318.4:c.660+1G>A MANE Select	NP_919299.3:n.660+1G>A