Canonical Allele Identifier: CA224368
Gene: B3GLCT HGNC NCBI

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
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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
Search 100 bp 5'
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