Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA936572668

Gene: RCN1 HGNC NCBI
PAX6-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1957851841

gnomAD v3: 11-31863386-T-A

gnomAD v4: 11-31863386-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.31863386T>A , CM000673.2:g.31863386T>A	GRCh38
NC_000011.9:g.31884932T>A , CM000673.1:g.31884932T>A	GRCh37
NC_000011.8:g.31841508T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000506388.2:n.75-21908T>A (RCN1)
ENST00000530348.5:c.-245+50889T>A (RCN1)	ENSP00000436482.1:n.-245+50889T>A
ENST00000532942.5:c.101+46747T>A (RCN1)	ENSP00000436422.1:n.101+46747T>A
NR_033971.1:n.75-21908T>A (PAX6-AS1)

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