Canonical Allele Identifier: CA389334034
Gene: PRKD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.29626524A>T , CM000676.2:g.29626524A>T GRCh38
NC_000014.8:g.30095730A>T , CM000676.1:g.30095730A>T GRCh37
NC_000014.7:g.29165481A>T NCBI36
NG_052879.1:g.306170T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000616995.5:n.1529T>A
ENST00000691517.1:n.1042T>A
ENST00000331968.11:c.1758T>A MANE Select ENSP00000333568.6:p.Asp586Glu
ENST00000651571.1:c.1570T>A ENSP00000498919.1:n.1570T>A
ENST00000651616.1:c.1639T>A ENSP00000498661.1:n.1639T>A
ENST00000331968.9:c.1758T>A ENSP00000333568.5:p.Asp586Glu
ENST00000415220.6:c.1782T>A ENSP00000390535.2:p.Asp594Glu
ENST00000616995.4:c.1758T>A ENSP00000482645.1:p.Asp586Glu
NM_002742.2:c.1758T>A NP_002733.2:p.Asp586Glu
XM_005267859.1:c.1782T>A XP_005267916.1:p.Asp594Glu
XM_011536964.1:c.1554T>A XP_011535266.1:p.Asp518Glu
XM_011536965.1:c.1494T>A XP_011535267.1:p.Asp498Glu
XR_943493.1:n.1897T>A
NM_001330069.1:c.1782T>A NP_001316998.1:p.Asp594Glu
NM_001348390.1:c.1494T>A NP_001335319.1:p.Asp498Glu
XM_011536965.2:c.1494T>A XP_011535267.1:p.Asp498Glu
XM_017021462.1:c.1263T>A XP_016876951.1:p.Asp421Glu
XR_943493.2:n.2075T>A
NM_001330069.2:c.1782T>A NP_001316998.1:p.Asp594Glu
NM_002742.3:c.1758T>A MANE Select NP_002733.2:p.Asp586Glu