ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA13185253
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr10:g.23080492C>T
GRCh37
chr10:g.23369421C>T
Linked Data - Sequence & Population
gnomAD v2:
10:23369421 C / T
gnomAD v3:
10:23080492 C / T
gnomAD v4:
chr10-23080492-C-T
Joint Max Group AF
0.5381605 (AFR)
Genomes Max Group AF
0.5381605 (AFR)
Linked Data - NCBI & NCI
dbSNP:
722258
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.23080492C>T , CM000672.2:g.23080492C>T
GRCh38
NC_000010.10:g.23369421C>T , CM000672.1:g.23369421C>T
GRCh37
NC_000010.9:g.23409427C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001747394.1:n.461-10924G>A
Search 100 bp 5'
Search 100 bp 3'