Canonical Allele Identifier: CA339889
Gene: B3GLCT HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.31247104G>A
GRCh37 chr13:g.31821241G>A
gnomAD v2:
13:31821241 G / A
gnomAD v3:
13:31247104 G / A
gnomAD v4:
chr13-31247104-G-A
Joint Max Group AF 0.00000444 (AFR)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000001327
ClinVar Variation:
1265
dbSNP:
80338850
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31247104G>A , CM000675.2:g.31247104G>A GRCh38
NC_000013.10:g.31821241G>A , CM000675.1:g.31821241G>A GRCh37
NC_000013.9:g.30719241G>A NCBI36
NG_011732.1:g.52130G>A
NG_011732.2:g.52130G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343307.5:c.347+5G>A MANE Select ENSP00000343002.4:n.347+5G>A
ENST00000343307.4:c.347+5G>A ENSP00000343002.4:n.347+5G>A
NM_194318.3:c.347+5G>A NP_919299.3:n.347+5G>A
XM_006719768.2:c.290+5G>A XP_006719831.1:n.290+5G>A
XM_011534936.1:c.347+5G>A XP_011533238.1:n.347+5G>A
XM_011534937.1:c.347+5G>A XP_011533239.1:n.347+5G>A
XM_011534938.1:c.200+5G>A XP_011533240.1:n.200+5G>A
XR_941500.1:n.446+5G>A
XR_941501.1:n.446+5G>A
XM_006719768.3:c.290+5G>A XP_006719831.1:n.290+5G>A
XM_011534938.2:c.200+5G>A XP_011533240.1:n.200+5G>A
XM_017020395.1:c.200+5G>A XP_016875884.1:n.200+5G>A
NM_194318.4:c.347+5G>A MANE Select NP_919299.3:n.347+5G>A
Search 100 bp 5'
Search 100 bp 3'