Canonical Allele Identifier: CA389333886
Gene: PRKD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.29626490A>G , CM000676.2:g.29626490A>G GRCh38
NC_000014.8:g.30095696A>G , CM000676.1:g.30095696A>G GRCh37
NC_000014.7:g.29165447A>G NCBI36
NG_052879.1:g.306204T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000616995.5:n.1563T>C
ENST00000691517.1:n.1076T>C
ENST00000331968.11:c.1792T>C MANE Select ENSP00000333568.6:p.Tyr598His
ENST00000651571.1:c.1604T>C ENSP00000498919.1:n.1604T>C
ENST00000651616.1:c.1673T>C ENSP00000498661.1:n.1673T>C
ENST00000331968.9:c.1792T>C ENSP00000333568.5:p.Tyr598His
ENST00000415220.6:c.1816T>C ENSP00000390535.2:p.Tyr606His
ENST00000616995.4:c.1792T>C ENSP00000482645.1:p.Tyr598His
NM_002742.2:c.1792T>C NP_002733.2:p.Tyr598His
XM_005267859.1:c.1816T>C XP_005267916.1:p.Tyr606His
XM_011536964.1:c.1588T>C XP_011535266.1:p.Tyr530His
XM_011536965.1:c.1528T>C XP_011535267.1:p.Tyr510His
XR_943493.1:n.1931T>C
NM_001330069.1:c.1816T>C NP_001316998.1:p.Tyr606His
NM_001348390.1:c.1528T>C NP_001335319.1:p.Tyr510His
XM_011536965.2:c.1528T>C XP_011535267.1:p.Tyr510His
XM_017021462.1:c.1297T>C XP_016876951.1:p.Tyr433His
XR_943493.2:n.2109T>C
NM_001330069.2:c.1816T>C NP_001316998.1:p.Tyr606His
NM_002742.3:c.1792T>C MANE Select NP_002733.2:p.Tyr598His