Canonical Allele Identifier: CA173032
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46411815G>A , CM000683.2:g.46411815G>A GRCh38
NC_000021.8:g.47831729G>A , CM000683.1:g.47831729G>A GRCh37
NC_000021.7:g.46656157G>A NCBI36
NG_008961.1:g.92694G>A
NG_008961.2:g.92694G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695527.1:n.87G>A
ENST00000695558.1:c.5775G>A ENSP00000512015.1:p.Ala1925=
ENST00000703224.1:c.*4985G>A ENSP00000515242.1:n.*4985G>A
ENST00000359568.10:c.5742G>A MANE Select ENSP00000352572.5:p.Ala1914=
ENST00000359568.9:c.5742G>A ENSP00000352572.5:p.Ala1914=
ENST00000480896.5:n.6011G>A
NM_001315529.1:c.5388G>A NP_001302458.1:p.Ala1796=
NM_006031.5:c.5742G>A NP_006022.3:p.Ala1914=
XM_005261124.3:c.5775G>A XP_005261181.1:p.Ala1925=
XM_011529593.1:c.5853G>A XP_011527895.1:p.Ala1951=
XM_011529594.1:c.5823G>A XP_011527896.1:p.Ala1941=
XM_005261124.5:c.5775G>A XP_005261181.1:p.Ala1925=
XM_011529594.3:c.5823G>A XP_011527896.1:p.Ala1941=
XM_017028362.2:c.5742G>A XP_016883851.1:p.Ala1914=
XM_017028363.1:c.5421G>A XP_016883852.1:p.Ala1807=
XM_024452082.1:c.4659G>A XP_024307850.1:p.Ala1553=
XM_024452083.1:c.3555G>A XP_024307851.1:p.Ala1185=
NM_006031.6:c.5742G>A MANE Select NP_006022.3:p.Ala1914=
NM_001315529.2:c.5388G>A NP_001302458.1:p.Ala1796=