Canonical Allele Identifier: CA6050274
Gene: B3GAT3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.62621946A>G
GRCh37 chr11:g.62389418A>G
Revel Score:
ENST00000265471 (MANE Select) 0.441
ENST00000531383 0.441
ENST00000534026 0.441
ENST00000534715 0.441
gnomAD v2:
11:62389418 A / G
gnomAD v3:
11:62621946 A / G
gnomAD v4:
chr11-62621946-A-G
Joint Max Group AF 0.00008512 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00008856 (NFE)
ClinVar RCV:
RCV001585095
RCV002570835
ClinVar Variation:
1212504
dbSNP:
772496010
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62621946A>G , CM000673.2:g.62621946A>G GRCh38
NC_000011.9:g.62389418A>G , CM000673.1:g.62389418A>G GRCh37
NC_000011.8:g.62145994A>G NCBI36
NG_031863.1:g.5230T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265471.10:c.2T>C MANE Select ENSP00000265471.5:p.Met1Thr
ENST00000265471.9:c.2T>C ENSP00000265471.5:p.Met1Thr
ENST00000531383.5:c.2T>C ENSP00000431359.1:p.Met1Thr
ENST00000532585.5:c.2T>C ENSP00000432604.1:p.Met1Thr
ENST00000534026.5:c.2T>C ENSP00000432474.1:p.Met1Thr
ENST00000534715.1:c.2T>C ENSP00000432854.1:p.Met1Thr
NM_001288721.1:c.-259T>C NP_001275650.1:n.-259T>C
NM_001288722.1:c.2T>C NP_001275651.1:p.Met1Thr
NM_001288723.1:c.2T>C NP_001275652.1:p.Met1Thr
NM_012200.3:c.2T>C NP_036332.2:p.Met1Thr
NR_109991.1:n.230T>C
NM_012200.4:c.2T>C MANE Select NP_036332.2:p.Met1Thr
NM_001288721.2:c.-259T>C NP_001275650.1:n.-259T>C
NM_001288722.2:c.2T>C NP_001275651.1:p.Met1Thr
NM_001288723.2:c.2T>C NP_001275652.1:p.Met1Thr
NR_109991.2:n.41T>C
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