ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA234140926
Gene: ST8SIA1
HGNC
NCBI
Linked Data
dbSNP Id:
rs960824429
gnomAD v3:
12-22413348-A-G
gnomAD v4:
12-22413348-A-G
MyVariant Identifiers:
chr12:g.22566282A>G (hg19)
chr12:g.22413348A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.22413348A>G , CM000674.2:g.22413348A>G
GRCh38
NC_000012.11:g.22566282A>G , CM000674.1:g.22566282A>G
GRCh37
NC_000012.10:g.22457549A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000536558.5:n.166+23528T>C
Search 100 bp 5'
Search 100 bp 3'