Canonical Allele Identifier: CA389477849

Gene: PRKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29725594C>A , CM000676.2:g.29725594C>A	GRCh38
NC_000014.8:g.30194800C>A , CM000676.1:g.30194800C>A	GRCh37
NC_000014.7:g.29264551C>A	NCBI36
NG_052879.1:g.207100G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002742.3:c.345G>T MANE Select	NP_002733.2:p.Gln115His
ENST00000331968.11:c.345G>T MANE Select	ENSP00000333568.6:p.Gln115His
NM_001330069.1:c.345G>T	NP_001316998.1:p.Gln115His
NM_001330069.2:c.345G>T	NP_001316998.1:p.Gln115His
NM_001348390.1:c.57G>T	NP_001335319.1:p.Gln19His
NM_002742.2:c.345G>T	NP_002733.2:p.Gln115His
ENST00000331968.9:c.345G>T	ENSP00000333568.5:p.Gln115His
ENST00000415220.6:c.345G>T	ENSP00000390535.2:p.Gln115His
ENST00000549503.1:c.114G>T	ENSP00000446866.1:p.Gln38His
ENST00000616995.4:c.345G>T	ENSP00000482645.1:p.Gln115His
ENST00000616995.5:n.116G>T
ENST00000651571.1:c.81G>T	ENSP00000498919.1:p.Gln27His
ENST00000651616.1:c.81G>T	ENSP00000498661.1:p.Gln27His
XM_005267859.1:c.345G>T	XP_005267916.1:p.Gln115His
XM_011536964.1:c.117G>T	XP_011535266.1:p.Gln39His
XM_011536965.1:c.57G>T	XP_011535267.1:p.Gln19His
XM_011536965.2:c.57G>T	XP_011535267.1:p.Gln19His
XM_017021462.1:c.-227G>T	XP_016876951.1:n.-227G>T
XR_943493.1:n.460G>T
XR_943493.2:n.638G>T