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Canonical Allele Identifier:
CA13907990
Gene: SOX1-OT
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.111997186C>T
GRCh37
chr13:g.112651500C>T
Linked Data - Sequence & Population
gnomAD v2:
13:112651500 C / T
gnomAD v3:
13:111997186 C / T
gnomAD v4:
chr13-111997186-C-T
Joint Max Group AF
0.51835005 (NFE)
Genomes Max Group AF
0.51835005 (NFE)
Linked Data - NCBI & NCI
dbSNP:
726455
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.111997186C>T , CM000675.2:g.111997186C>T
GRCh38
NC_000013.10:g.112651500C>T , CM000675.1:g.112651500C>T
GRCh37
NC_000013.9:g.111699501C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_120392.1:n.84+24793C>T
Search 100 bp 5'
Search 100 bp 3'