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Canonical Allele Identifier:
CA337722983
Gene: CASKP1
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrY:g.12946757T>C
GRCh37
chrY:g.15058665T>C
Linked Data - Sequence & Population
gnomAD v3:
Y:12946757 T / C
gnomAD v4:
chrY-12946757-T-C
Joint Max Group AF
0.00015596 (AFR)
Genomes Max Group AF
0.00015596 (AFR)
Linked Data - NCBI & NCI
dbSNP:
111496626
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12946757T>C , CM000686.2:g.12946757T>C
GRCh38
NC_000024.9:g.15058665T>C , CM000686.1:g.15058665T>C
GRCh37
NC_000024.8:g.13568059T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000412870.1:n.188-450A>G
Search 100 bp 5'
Search 100 bp 3'