Canonical Allele Identifier: CA513174313
Gene: PCNT HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.47831657G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46411743G>A , CM000683.2:g.46411743G>A GRCh38
NC_000021.8:g.47831657G>A , CM000683.1:g.47831657G>A GRCh37
NC_000021.7:g.46656085G>A NCBI36
NG_008961.1:g.92622G>A
NG_008961.2:g.92622G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695527.1:n.15G>A
ENST00000695558.1:c.5703G>A ENSP00000512015.1:p.Glu1901=
ENST00000703224.1:c.*4913G>A ENSP00000515242.1:n.*4913G>A
ENST00000359568.10:c.5670G>A MANE Select ENSP00000352572.5:p.Glu1890=
ENST00000359568.9:c.5670G>A ENSP00000352572.5:p.Glu1890=
ENST00000480896.5:n.5939G>A
NM_001315529.1:c.5316G>A NP_001302458.1:p.Glu1772=
NM_006031.5:c.5670G>A NP_006022.3:p.Glu1890=
XM_005261124.3:c.5703G>A XP_005261181.1:p.Glu1901=
XM_011529593.1:c.5781G>A XP_011527895.1:p.Glu1927=
XM_011529594.1:c.5751G>A XP_011527896.1:p.Glu1917=
XM_005261124.5:c.5703G>A XP_005261181.1:p.Glu1901=
XM_011529594.3:c.5751G>A XP_011527896.1:p.Glu1917=
XM_017028362.2:c.5670G>A XP_016883851.1:p.Glu1890=
XM_017028363.1:c.5349G>A XP_016883852.1:p.Glu1783=
XM_024452082.1:c.4587G>A XP_024307850.1:p.Glu1529=
XM_024452083.1:c.3483G>A XP_024307851.1:p.Glu1161=
NM_006031.6:c.5670G>A MANE Select NP_006022.3:p.Glu1890=
NM_001315529.2:c.5316G>A NP_001302458.1:p.Glu1772=