Canonical Allele Identifier: CA337585395
Gene: PRKY HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7309148A>G , CM000686.2:g.7309148A>G GRCh38
NC_000024.9:g.7177189A>G , CM000686.1:g.7177189A>G GRCh37
NC_000024.8:g.7237189A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000528056.5:n.676+5043A>G
ENST00000533551.5:n.335+5043A>G
NR_028062.1:n.676+5043A>G