Canonical Allele Identifier: CA337722876
Gene: CASKP1 HGNC NCBI

Linked Data

dbSNP Id: rs113888405
gnomAD v3: Y-12941767-C-A
gnomAD v4: Y-12941767-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12941767C>A , CM000686.2:g.12941767C>A GRCh38
NC_000024.9:g.15053676C>A , CM000686.1:g.15053676C>A GRCh37
NC_000024.8:g.13563070C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000412870.1:n.334+3853G>T