Canonical Allele Identifier: CA389333989
Gene: PRKD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.29626514C>A , CM000676.2:g.29626514C>A GRCh38
NC_000014.8:g.30095720C>A , CM000676.1:g.30095720C>A GRCh37
NC_000014.7:g.29165471C>A NCBI36
NG_052879.1:g.306180G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000616995.5:n.1539G>T
ENST00000691517.1:n.1052G>T
ENST00000331968.11:c.1768G>T MANE Select ENSP00000333568.6:p.Gly590Cys
ENST00000651571.1:c.1580G>T ENSP00000498919.1:n.1580G>T
ENST00000651616.1:c.1649G>T ENSP00000498661.1:n.1649G>T
ENST00000331968.9:c.1768G>T ENSP00000333568.5:p.Gly590Cys
ENST00000415220.6:c.1792G>T ENSP00000390535.2:p.Gly598Cys
ENST00000616995.4:c.1768G>T ENSP00000482645.1:p.Gly590Cys
NM_002742.2:c.1768G>T NP_002733.2:p.Gly590Cys
XM_005267859.1:c.1792G>T XP_005267916.1:p.Gly598Cys
XM_011536964.1:c.1564G>T XP_011535266.1:p.Gly522Cys
XM_011536965.1:c.1504G>T XP_011535267.1:p.Gly502Cys
XR_943493.1:n.1907G>T
NM_001330069.1:c.1792G>T NP_001316998.1:p.Gly598Cys
NM_001348390.1:c.1504G>T NP_001335319.1:p.Gly502Cys
XM_011536965.2:c.1504G>T XP_011535267.1:p.Gly502Cys
XM_017021462.1:c.1273G>T XP_016876951.1:p.Gly425Cys
XR_943493.2:n.2085G>T
NM_001330069.2:c.1792G>T NP_001316998.1:p.Gly598Cys
NM_002742.3:c.1768G>T MANE Select NP_002733.2:p.Gly590Cys