Canonical Allele Identifier: CA675548644
Gene: RCN1 HGNC NCBI
PAX6-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs685428

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.31846153G>T , CM000673.2:g.31846153G>T GRCh38
NC_000011.9:g.31867699G>T , CM000673.1:g.31867699G>T GRCh37
NC_000011.8:g.31824275G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506388.2:n.74+29514G>T (RCN1)
ENST00000530348.5:c.-245+33656G>T (RCN1) ENSP00000436482.1:n.-245+33656G>T
ENST00000532942.5:c.101+29514G>T (RCN1) ENSP00000436422.1:n.101+29514G>T
NR_033971.1:n.74+29514G>T (PAX6-AS1)