Canonical Allele Identifier: CA2119530978
Gene: SOX1-OT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.111997186C>A , CM000675.2:g.111997186C>A GRCh38
NC_000013.10:g.112651500C>A , CM000675.1:g.112651500C>A GRCh37
NC_000013.9:g.111699501C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_120392.1:n.84+24793C>A