Canonical Allele Identifier: CA258636040
Gene: PRKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30125451G>A , CM000676.2:g.30125451G>A GRCh38
NC_000014.8:g.30594657G>A , CM000676.1:g.30594657G>A GRCh37
NC_000014.7:g.29664408G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000549503.1:c.-46+65848C>T ENSP00000446866.1:n.-46+65848C>T