Canonical Allele Identifier: CA257951475

Gene: PRKD1

Linked Data

• dbSNP Id: rs964788233
• gnomAD v3: 14-29626513-C-A
• gnomAD v4: 14-29626513-C-A
• MyVariant Identifiers: chr14:g.30095719C>A (hg19) ; chr14:g.29626513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626513C>A , CM000676.2:g.29626513C>A	GRCh38
NC_000014.8:g.30095719C>A , CM000676.1:g.30095719C>A	GRCh37
NC_000014.7:g.29165470C>A	NCBI36
NG_052879.1:g.306181G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1540G>T
ENST00000691517.1:n.1053G>T
ENST00000331968.11:c.1769G>T MANE Select	ENSP00000333568.6:p.Gly590Val
ENST00000651571.1:c.1581G>T	ENSP00000498919.1:n.1581G>T
ENST00000651616.1:c.1650G>T	ENSP00000498661.1:n.1650G>T
ENST00000331968.9:c.1769G>T	ENSP00000333568.5:p.Gly590Val
ENST00000415220.6:c.1793G>T	ENSP00000390535.2:p.Gly598Val
ENST00000616995.4:c.1769G>T	ENSP00000482645.1:p.Gly590Val
NM_002742.2:c.1769G>T	NP_002733.2:p.Gly590Val
XM_005267859.1:c.1793G>T	XP_005267916.1:p.Gly598Val
XM_011536964.1:c.1565G>T	XP_011535266.1:p.Gly522Val
XM_011536965.1:c.1505G>T	XP_011535267.1:p.Gly502Val
XR_943493.1:n.1908G>T
NM_001330069.1:c.1793G>T	NP_001316998.1:p.Gly598Val
NM_001348390.1:c.1505G>T	NP_001335319.1:p.Gly502Val
XM_011536965.2:c.1505G>T	XP_011535267.1:p.Gly502Val
XM_017021462.1:c.1274G>T	XP_016876951.1:p.Gly425Val
XR_943493.2:n.2086G>T
NM_001330069.2:c.1793G>T	NP_001316998.1:p.Gly598Val
NM_002742.3:c.1769G>T MANE Select	NP_002733.2:p.Gly590Val