Canonical Allele Identifier: CA389333980
Gene: PRKD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.29626511A>T , CM000676.2:g.29626511A>T GRCh38
NC_000014.8:g.30095717A>T , CM000676.1:g.30095717A>T GRCh37
NC_000014.7:g.29165468A>T NCBI36
NG_052879.1:g.306183T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000616995.5:n.1542T>A
ENST00000691517.1:n.1055T>A
ENST00000331968.11:c.1771T>A MANE Select ENSP00000333568.6:p.Ser591Thr
ENST00000651571.1:c.1583T>A ENSP00000498919.1:n.1583T>A
ENST00000651616.1:c.1652T>A ENSP00000498661.1:n.1652T>A
ENST00000331968.9:c.1771T>A ENSP00000333568.5:p.Ser591Thr
ENST00000415220.6:c.1795T>A ENSP00000390535.2:p.Ser599Thr
ENST00000616995.4:c.1771T>A ENSP00000482645.1:p.Ser591Thr
NM_002742.2:c.1771T>A NP_002733.2:p.Ser591Thr
XM_005267859.1:c.1795T>A XP_005267916.1:p.Ser599Thr
XM_011536964.1:c.1567T>A XP_011535266.1:p.Ser523Thr
XM_011536965.1:c.1507T>A XP_011535267.1:p.Ser503Thr
XR_943493.1:n.1910T>A
NM_001330069.1:c.1795T>A NP_001316998.1:p.Ser599Thr
NM_001348390.1:c.1507T>A NP_001335319.1:p.Ser503Thr
XM_011536965.2:c.1507T>A XP_011535267.1:p.Ser503Thr
XM_017021462.1:c.1276T>A XP_016876951.1:p.Ser426Thr
XR_943493.2:n.2088T>A
NM_001330069.2:c.1795T>A NP_001316998.1:p.Ser599Thr
NM_002742.3:c.1771T>A MANE Select NP_002733.2:p.Ser591Thr