Canonical Allele Identifier: CA13479705
Gene: ANO5 HGNC NCBI
COSMIC:
COSN17910567 (not active)
MyVariant.info:
GRCh38 chr11:g.22092547G>A
GRCh37 chr11:g.22114093G>A
gnomAD v2:
11:22114093 G / A
gnomAD v3:
11:22092547 G / A
gnomAD v4:
chr11-22092547-G-A
Joint Max Group AF 0.35256709 (EAS)
Genomes Max Group AF 0.35256709 (EAS)
dbSNP:
11026412
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22092547G>A , CM000673.2:g.22092547G>A GRCh38
NC_000011.9:g.22114093G>A , CM000673.1:g.22114093G>A GRCh37
NC_000011.8:g.22070669G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682428.1:n.964+12845G>A
ENST00000648804.1:n.544+12845G>A
XR_428887.2:n.482+12845G>A
XR_931110.1:n.482+12845G>A
XR_931111.1:n.437+12845G>A
XR_931113.1:n.407+12845G>A
XR_931114.1:n.388+12845G>A
XR_931115.1:n.422+12845G>A
XR_931116.1:n.451+12845G>A
XR_001748151.1:n.594+12845G>A
XR_001748152.1:n.545+12845G>A
XR_001748153.1:n.662+12845G>A
XR_931110.2:n.474+12845G>A
XR_931111.2:n.437+12845G>A
XR_931115.2:n.498+12845G>A
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