ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA337722983
Gene: CASKP1
HGNC
NCBI
Linked Data
dbSNP Id:
rs111496626
gnomAD v3:
Y-12946757-T-C
gnomAD v4:
Y-12946757-T-C
MyVariant Identifiers:
chrY:g.15058665T>C (hg19)
chrY:g.12946757T>C (hg38)
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'