Canonical Allele Identifier: CA337584934
Gene: PRKY HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7297485C>T , CM000686.2:g.7297485C>T GRCh38
NC_000024.9:g.7165526C>T , CM000686.1:g.7165526C>T GRCh37
NC_000024.8:g.7225526C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000528056.5:n.508-6452C>T
ENST00000533551.5:n.167-6452C>T
NR_028062.1:n.508-6452C>T