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

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