Canonical Allele Identifier: CA7141037

Gene: PRKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29624249C>T , CM000676.2:g.29624249C>T	GRCh38
NC_000014.8:g.30093455C>T , CM000676.1:g.30093455C>T	GRCh37
NC_000014.7:g.29163206C>T	NCBI36
NG_052879.1:g.308445G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002742.3:c.1808G>A MANE Select	NP_002733.2:p.Arg603His
ENST00000331968.11:c.1808G>A MANE Select	ENSP00000333568.6:p.Arg603His
NM_001330069.1:c.1832G>A	NP_001316998.1:p.Arg611His
NM_001330069.2:c.1832G>A	NP_001316998.1:p.Arg611His
NM_001348390.1:c.1544G>A	NP_001335319.1:p.Arg515His
NM_002742.2:c.1808G>A	NP_002733.2:p.Arg603His
ENST00000331968.9:c.1808G>A	ENSP00000333568.5:p.Arg603His
ENST00000415220.6:c.1832G>A	ENSP00000390535.2:p.Arg611His
ENST00000616995.4:c.1808G>A	ENSP00000482645.1:p.Arg603His
ENST00000616995.5:n.1579G>A
ENST00000651571.1:c.1620G>A	ENSP00000498919.1:n.1620G>A
ENST00000651616.1:c.1689G>A	ENSP00000498661.1:n.1689G>A
ENST00000691517.1:n.1092G>A
XM_005267859.1:c.1832G>A	XP_005267916.1:p.Arg611His
XM_011536964.1:c.1604G>A	XP_011535266.1:p.Arg535His
XM_011536965.1:c.1544G>A	XP_011535267.1:p.Arg515His
XM_011536965.2:c.1544G>A	XP_011535267.1:p.Arg515His
XM_017021462.1:c.1313G>A	XP_016876951.1:p.Arg438His
XR_943493.1:n.1947G>A
XR_943493.2:n.2125G>A