ClinGen Allele Registry
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Canonical Allele Identifier:
CA686494356
Gene: ST8SIA1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1193814056
gnomAD v3:
12-22413303-G-A
gnomAD v4:
12-22413303-G-A
MyVariant Identifiers:
chr12:g.22566237G>A (hg19)
chr12:g.22413303G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.22413303G>A , CM000674.2:g.22413303G>A
GRCh38
NC_000012.11:g.22566237G>A , CM000674.1:g.22566237G>A
GRCh37
NC_000012.10:g.22457504G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000536558.5:n.166+23573C>T
Search 100 bp 5'
Search 100 bp 3'