Canonical Allele Identifier: CA513174044
Gene: PCNT HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.47831756A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46411842A>T , CM000683.2:g.46411842A>T GRCh38
NC_000021.8:g.47831756A>T , CM000683.1:g.47831756A>T GRCh37
NC_000021.7:g.46656184A>T NCBI36
NG_008961.1:g.92721A>T
NG_008961.2:g.92721A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695527.1:n.114A>T
ENST00000695558.1:c.5802A>T ENSP00000512015.1:p.Arg1934=
ENST00000703224.1:c.*5012A>T ENSP00000515242.1:n.*5012A>T
ENST00000359568.10:c.5769A>T MANE Select ENSP00000352572.5:p.Arg1923=
ENST00000359568.9:c.5769A>T ENSP00000352572.5:p.Arg1923=
ENST00000480896.5:n.6038A>T
NM_001315529.1:c.5415A>T NP_001302458.1:p.Arg1805=
NM_006031.5:c.5769A>T NP_006022.3:p.Arg1923=
XM_005261124.3:c.5802A>T XP_005261181.1:p.Arg1934=
XM_011529593.1:c.5880A>T XP_011527895.1:p.Arg1960=
XM_011529594.1:c.5850A>T XP_011527896.1:p.Arg1950=
XM_005261124.5:c.5802A>T XP_005261181.1:p.Arg1934=
XM_011529594.3:c.5850A>T XP_011527896.1:p.Arg1950=
XM_017028362.2:c.5769A>T XP_016883851.1:p.Arg1923=
XM_017028363.1:c.5448A>T XP_016883852.1:p.Arg1816=
XM_024452082.1:c.4686A>T XP_024307850.1:p.Arg1562=
XM_024452083.1:c.3582A>T XP_024307851.1:p.Arg1194=
NM_006031.6:c.5769A>T MANE Select NP_006022.3:p.Arg1923=
NM_001315529.2:c.5415A>T NP_001302458.1:p.Arg1805=