Canonical Allele Identifier: CA224368
Gene: B3GLCT HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.31269278G>A
GRCh37 chr13:g.31843415G>A
gnomAD v2:
13:31843415 G / A
gnomAD v3:
13:31269278 G / A
gnomAD v4:
chr13-31269278-G-A
Joint Max Group AF 0.00120688 (NFE)
Genomes Max Group AF 0.00118306 (NFE)
Exomes Max Group AF 0.00119591 (NFE)
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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
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