Canonical Allele Identifier: CA173020
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46401731G>A , CM000683.2:g.46401731G>A GRCh38
NC_000021.8:g.47821645G>A , CM000683.1:g.47821645G>A GRCh37
NC_000021.7:g.46646073G>A NCBI36
NG_008961.1:g.82610G>A
NG_008961.2:g.82610G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695558.1:c.4995+10G>A ENSP00000512015.1:n.4995+10G>A
ENST00000703224.1:c.*4205+10G>A ENSP00000515242.1:n.*4205+10G>A
ENST00000359568.10:c.4962+10G>A MANE Select ENSP00000352572.5:n.4962+10G>A
ENST00000359568.9:c.4962+10G>A ENSP00000352572.5:n.4962+10G>A
ENST00000480896.5:n.5231+10G>A
NM_001315529.1:c.4608+10G>A NP_001302458.1:n.4608+10G>A
NM_006031.5:c.4962+10G>A NP_006022.3:n.4962+10G>A
XM_005261124.3:c.4995+10G>A XP_005261181.1:n.4995+10G>A
XM_011529593.1:c.5073+10G>A XP_011527895.1:n.5073+10G>A
XM_011529594.1:c.5043+10G>A XP_011527896.1:n.5043+10G>A
XM_005261124.5:c.4995+10G>A XP_005261181.1:n.4995+10G>A
XM_011529594.3:c.5043+10G>A XP_011527896.1:n.5043+10G>A
XM_017028362.2:c.4962+10G>A XP_016883851.1:n.4962+10G>A
XM_017028363.1:c.4641+10G>A XP_016883852.1:n.4641+10G>A
XM_024452082.1:c.3879+10G>A XP_024307850.1:n.3879+10G>A
XM_024452083.1:c.2775+10G>A XP_024307851.1:n.2775+10G>A
NM_006031.6:c.4962+10G>A MANE Select NP_006022.3:n.4962+10G>A
NM_001315529.2:c.4608+10G>A NP_001302458.1:n.4608+10G>A