Canonical Allele Identifier: CA389334051
Gene: PRKD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.29626529G>A , CM000676.2:g.29626529G>A GRCh38
NC_000014.8:g.30095735G>A , CM000676.1:g.30095735G>A GRCh37
NC_000014.7:g.29165486G>A NCBI36
NG_052879.1:g.306165C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000616995.5:n.1524C>T
ENST00000691517.1:n.1037C>T
ENST00000331968.11:c.1753C>T MANE Select ENSP00000333568.6:p.Pro585Ser
ENST00000651571.1:c.1565C>T ENSP00000498919.1:n.1565C>T
ENST00000651616.1:c.1634C>T ENSP00000498661.1:n.1634C>T
ENST00000331968.9:c.1753C>T ENSP00000333568.5:p.Pro585Ser
ENST00000415220.6:c.1777C>T ENSP00000390535.2:p.Pro593Ser
ENST00000616995.4:c.1753C>T ENSP00000482645.1:p.Pro585Ser
NM_002742.2:c.1753C>T NP_002733.2:p.Pro585Ser
XM_005267859.1:c.1777C>T XP_005267916.1:p.Pro593Ser
XM_011536964.1:c.1549C>T XP_011535266.1:p.Pro517Ser
XM_011536965.1:c.1489C>T XP_011535267.1:p.Pro497Ser
XR_943493.1:n.1892C>T
NM_001330069.1:c.1777C>T NP_001316998.1:p.Pro593Ser
NM_001348390.1:c.1489C>T NP_001335319.1:p.Pro497Ser
XM_011536965.2:c.1489C>T XP_011535267.1:p.Pro497Ser
XM_017021462.1:c.1258C>T XP_016876951.1:p.Pro420Ser
XR_943493.2:n.2070C>T
NM_001330069.2:c.1777C>T NP_001316998.1:p.Pro593Ser
NM_002742.3:c.1753C>T MANE Select NP_002733.2:p.Pro585Ser