ClinGen Allele Registry
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Canonical Allele Identifier:
CA14800588
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.54125940T>A
GRCh37
chr20:g.52742479T>A
Linked Data - Sequence & Population
gnomAD v2:
20:52742479 T / A
gnomAD v3:
20:54125940 T / A
gnomAD v4:
chr20-54125940-T-A
Joint Max Group AF
0.31231761 (AMR)
Genomes Max Group AF
0.31231761 (AMR)
Linked Data - NCBI & NCI
dbSNP:
6013897
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.54125940T>A , CM000682.2:g.54125940T>A
GRCh38
NC_000020.10:g.52742479T>A , CM000682.1:g.52742479T>A
GRCh37
NC_000020.9:g.52175886T>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'