Canonical Allele Identifier: CA337586960
Gene: PRKY HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7378685C>T , CM000686.2:g.7378685C>T GRCh38
NC_000024.9:g.7246726C>T , CM000686.1:g.7246726C>T GRCh37
NC_000024.8:g.7306726C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000528056.5:n.4355C>T
NR_028062.1:n.4355C>T