Canonical Allele Identifier: CA2624426687

Gene: PRKD1

Linked Data

• gnomAD v4: 14-29626633-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626633T>C , CM000676.2:g.29626633T>C	GRCh38
NC_000014.8:g.30095839T>C , CM000676.1:g.30095839T>C	GRCh37
NC_000014.7:g.29165590T>C	NCBI36
NG_052879.1:g.306061A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1497-77A>G
ENST00000691517.1:n.1010-77A>G
ENST00000331968.11:c.1726-77A>G MANE Select	ENSP00000333568.6:n.1726-77A>G
ENST00000651571.1:c.1538-77A>G	ENSP00000498919.1:n.1538-77A>G
ENST00000651616.1:c.1607-77A>G	ENSP00000498661.1:n.1607-77A>G
ENST00000331968.9:c.1726-77A>G	ENSP00000333568.5:n.1726-77A>G
ENST00000415220.6:c.1750-77A>G	ENSP00000390535.2:n.1750-77A>G
ENST00000616995.4:c.1726-77A>G	ENSP00000482645.1:n.1726-77A>G
NM_002742.2:c.1726-77A>G	NP_002733.2:n.1726-77A>G
XM_005267859.1:c.1750-77A>G	XP_005267916.1:n.1750-77A>G
XM_011536964.1:c.1522-77A>G	XP_011535266.1:n.1522-77A>G
XM_011536965.1:c.1462-77A>G	XP_011535267.1:n.1462-77A>G
XR_943493.1:n.1865-77A>G
NM_001330069.1:c.1750-77A>G	NP_001316998.1:n.1750-77A>G
NM_001348390.1:c.1462-77A>G	NP_001335319.1:n.1462-77A>G
XM_011536965.2:c.1462-77A>G	XP_011535267.1:n.1462-77A>G
XM_017021462.1:c.1231-77A>G	XP_016876951.1:n.1231-77A>G
XR_943493.2:n.2043-77A>G
NM_001330069.2:c.1750-77A>G	NP_001316998.1:n.1750-77A>G
NM_002742.3:c.1726-77A>G MANE Select	NP_002733.2:n.1726-77A>G