Canonical Allele Identifier: CA410556683

Gene: PCNT

Linked Data

• dbSNP Id: rs2086797334
• gnomAD v3: 21-46411843-G-A
• gnomAD v4: 21-46411843-G-A
• MyVariant Identifiers: chr21:g.47831757G>A (hg19) ; chr21:g.46411843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411843G>A , CM000683.2:g.46411843G>A	GRCh38
NC_000021.8:g.47831757G>A , CM000683.1:g.47831757G>A	GRCh37
NC_000021.7:g.46656185G>A	NCBI36
NG_008961.1:g.92722G>A
NG_008961.2:g.92722G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.115G>A
ENST00000695558.1:c.5803G>A	ENSP00000512015.1:p.Ala1935Thr
ENST00000703224.1:c.*5013G>A	ENSP00000515242.1:n.*5013G>A
ENST00000359568.10:c.5770G>A MANE Select	ENSP00000352572.5:p.Ala1924Thr
ENST00000359568.9:c.5770G>A	ENSP00000352572.5:p.Ala1924Thr
ENST00000480896.5:n.6039G>A
NM_001315529.1:c.5416G>A	NP_001302458.1:p.Ala1806Thr
NM_006031.5:c.5770G>A	NP_006022.3:p.Ala1924Thr
XM_005261124.3:c.5803G>A	XP_005261181.1:p.Ala1935Thr
XM_011529593.1:c.5881G>A	XP_011527895.1:p.Ala1961Thr
XM_011529594.1:c.5851G>A	XP_011527896.1:p.Ala1951Thr
XM_005261124.5:c.5803G>A	XP_005261181.1:p.Ala1935Thr
XM_011529594.3:c.5851G>A	XP_011527896.1:p.Ala1951Thr
XM_017028362.2:c.5770G>A	XP_016883851.1:p.Ala1924Thr
XM_017028363.1:c.5449G>A	XP_016883852.1:p.Ala1817Thr
XM_024452082.1:c.4687G>A	XP_024307850.1:p.Ala1563Thr
XM_024452083.1:c.3583G>A	XP_024307851.1:p.Ala1195Thr
NM_006031.6:c.5770G>A MANE Select	NP_006022.3:p.Ala1924Thr
NM_001315529.2:c.5416G>A	NP_001302458.1:p.Ala1806Thr