Canonical Allele Identifier: CA675557528
Gene: RCN1 HGNC NCBI
PAX6-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1164420720
gnomAD v3: 11-31863222-C-A
gnomAD v4: 11-31863222-C-A
MyVariant Identifiers: chr11:g.31884768C>A (hg19) chr11:g.31863222C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.31863222C>A , CM000673.2:g.31863222C>A GRCh38
NC_000011.9:g.31884768C>A , CM000673.1:g.31884768C>A GRCh37
NC_000011.8:g.31841344C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506388.2:n.75-22072C>A (RCN1)
ENST00000530348.5:c.-245+50725C>A (RCN1) ENSP00000436482.1:n.-245+50725C>A
ENST00000532942.5:c.101+46583C>A (RCN1) ENSP00000436422.1:n.101+46583C>A
NR_033971.1:n.75-22072C>A (PAX6-AS1)
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