Canonical Allele Identifier: CA1962085089
Gene: RCN1 HGNC NCBI
PAX6-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1957850217
gnomAD v3: 11-31863229-G-A
gnomAD v4: 11-31863229-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.31863229G>A , CM000673.2:g.31863229G>A GRCh38
NC_000011.9:g.31884775G>A , CM000673.1:g.31884775G>A GRCh37
NC_000011.8:g.31841351G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506388.2:n.75-22065G>A (RCN1)
ENST00000530348.5:c.-245+50732G>A (RCN1) ENSP00000436482.1:n.-245+50732G>A
ENST00000532942.5:c.101+46590G>A (RCN1) ENSP00000436422.1:n.101+46590G>A
NR_033971.1:n.75-22065G>A (PAX6-AS1)
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