ClinGen Allele Registry
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Canonical Allele Identifier:
CA293056305
Gene: CASC17
HGNC
NCBI
Linked Data
dbSNP Id:
rs937969559
gnomAD v3:
17-71112573-A-G
gnomAD v4:
17-71112573-A-G
MyVariant Identifiers:
chr17:g.69108714A>G (hg19)
chr17:g.71112573A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71112573A>G , CM000679.2:g.71112573A>G
GRCh38
NC_000017.10:g.69108714A>G , CM000679.1:g.69108714A>G
GRCh37
NC_000017.9:g.66620309A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_104152.1:n.218-12955T>C
Search 100 bp 5'
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