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Canonical Allele Identifier:
CA337725516
Gene: SFPQP1
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrY:g.13092796A>C
Linked Data - Sequence & Population
gnomAD v3:
Y:13092796 A / C
gnomAD v4:
chrY-13092796-A-C
Joint Max Group AF
0.12495 (MID)
Genomes Max Group AF
0.05019212 (AMR)
Linked Data - NCBI & NCI
dbSNP:
9786910
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.13092796A>C , CM000686.2:g.13092796A>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000446621.1:n.556-1779A>C
Search 100 bp 5'
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