Canonical Allele Identifier: CA14865593
Gene: PCNT HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.46410929T>C
GRCh37 chr21:g.47830843T>C
gnomAD v2:
21:47830843 T / C
gnomAD v3:
21:46410929 T / C
gnomAD v4:
chr21-46410929-T-C
Joint Max Group AF 0.7854517 (AFR)
Genomes Max Group AF 0.7854517 (AFR)
ClinVar RCV:
RCV000826308
ClinVar Variation:
667543
dbSNP:
2839243
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46410929T>C , CM000683.2:g.46410929T>C GRCh38
NC_000021.8:g.47830843T>C , CM000683.1:g.47830843T>C GRCh37
NC_000021.7:g.46655271T>C NCBI36
NG_008961.1:g.91808T>C
NG_008961.2:g.91808T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695558.1:c.5149-260T>C ENSP00000512015.1:n.5149-260T>C
ENST00000703224.1:c.*4359-260T>C ENSP00000515242.1:n.*4359-260T>C
ENST00000359568.10:c.5116-260T>C MANE Select ENSP00000352572.5:n.5116-260T>C
ENST00000359568.9:c.5116-260T>C ENSP00000352572.5:n.5116-260T>C
ENST00000480896.5:n.5385-260T>C
NM_001315529.1:c.4762-260T>C NP_001302458.1:n.4762-260T>C
NM_006031.5:c.5116-260T>C NP_006022.3:n.5116-260T>C
XM_005261124.3:c.5149-260T>C XP_005261181.1:n.5149-260T>C
XM_011529593.1:c.5227-260T>C XP_011527895.1:n.5227-260T>C
XM_011529594.1:c.5197-260T>C XP_011527896.1:n.5197-260T>C
XM_005261124.5:c.5149-260T>C XP_005261181.1:n.5149-260T>C
XM_011529594.3:c.5197-260T>C XP_011527896.1:n.5197-260T>C
XM_017028362.2:c.5116-260T>C XP_016883851.1:n.5116-260T>C
XM_017028363.1:c.4795-260T>C XP_016883852.1:n.4795-260T>C
XM_024452082.1:c.4033-260T>C XP_024307850.1:n.4033-260T>C
XM_024452083.1:c.2929-260T>C XP_024307851.1:n.2929-260T>C
NM_006031.6:c.5116-260T>C MANE Select NP_006022.3:n.5116-260T>C
NM_001315529.2:c.4762-260T>C NP_001302458.1:n.4762-260T>C
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