Canonical Allele Identifier: CA337586472
Gene: PRKY HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7342700G>A , CM000686.2:g.7342700G>A GRCh38
NC_000024.9:g.7210741G>A , CM000686.1:g.7210741G>A GRCh37
NC_000024.8:g.7270741G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000472666.1:n.199+1466G>A
ENST00000528056.5:n.1060+1466G>A
ENST00000533551.5:n.719+1466G>A
NR_028062.1:n.1060+1466G>A