Canonical Allele Identifier: CA389478025
Community Standard Title: NM_002742.3(PRKD1):c.265-1G>T
Gene: PRKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.29725675C>A , CM000676.2:g.29725675C>A GRCh38
NC_000014.8:g.30194881C>A , CM000676.1:g.30194881C>A GRCh37
NC_000014.7:g.29264632C>A NCBI36
NG_052879.1:g.207019G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002742.3:c.265-1G>T MANE Select NP_002733.2:n.265-1G>T
ENST00000331968.11:c.265-1G>T MANE Select ENSP00000333568.6:n.265-1G>T
NM_001330069.1:c.265-1G>T NP_001316998.1:n.265-1G>T
NM_001330069.2:c.265-1G>T NP_001316998.1:n.265-1G>T
NM_001348390.1:c.-24-1G>T NP_001335319.1:n.-24-1G>T
NM_002742.2:c.265-1G>T NP_002733.2:n.265-1G>T
ENST00000331968.9:c.265-1G>T ENSP00000333568.5:n.265-1G>T
ENST00000415220.6:c.265-1G>T ENSP00000390535.2:n.265-1G>T
ENST00000549503.1:c.34-1G>T ENSP00000446866.1:n.34-1G>T
ENST00000616995.4:c.265-1G>T ENSP00000482645.1:n.265-1G>T
ENST00000616995.5:n.36-1G>T
XM_005267859.1:c.265-1G>T XP_005267916.1:n.265-1G>T
XM_011536964.1:c.37-1G>T XP_011535266.1:n.37-1G>T
XM_011536965.1:c.-24-1G>T XP_011535267.1:n.-24-1G>T
XM_011536965.2:c.-24-1G>T XP_011535267.1:n.-24-1G>T
XM_017021462.1:c.-307-1G>T XP_016876951.1:n.-307-1G>T
XR_943493.1:n.380-1G>T
XR_943493.2:n.558-1G>T