Canonical Allele Identifier: CA410556794

Gene: PCNT

Linked Data

• gnomAD v4: 21-46411853-C-A
• MyVariant Identifiers: chr21:g.47831767C>A (hg19) ; chr21:g.46411853C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411853C>A , CM000683.2:g.46411853C>A	GRCh38
NC_000021.8:g.47831767C>A , CM000683.1:g.47831767C>A	GRCh37
NC_000021.7:g.46656195C>A	NCBI36
NG_008961.1:g.92732C>A
NG_008961.2:g.92732C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.125C>A
ENST00000695558.1:c.5813C>A	ENSP00000512015.1:p.Ala1938Asp
ENST00000703224.1:c.*5023C>A	ENSP00000515242.1:n.*5023C>A
ENST00000359568.10:c.5780C>A MANE Select	ENSP00000352572.5:p.Ala1927Asp
ENST00000359568.9:c.5780C>A	ENSP00000352572.5:p.Ala1927Asp
ENST00000480896.5:n.6049C>A
NM_001315529.1:c.5426C>A	NP_001302458.1:p.Ala1809Asp
NM_006031.5:c.5780C>A	NP_006022.3:p.Ala1927Asp
XM_005261124.3:c.5813C>A	XP_005261181.1:p.Ala1938Asp
XM_011529593.1:c.5891C>A	XP_011527895.1:p.Ala1964Asp
XM_011529594.1:c.5861C>A	XP_011527896.1:p.Ala1954Asp
XM_005261124.5:c.5813C>A	XP_005261181.1:p.Ala1938Asp
XM_011529594.3:c.5861C>A	XP_011527896.1:p.Ala1954Asp
XM_017028362.2:c.5780C>A	XP_016883851.1:p.Ala1927Asp
XM_017028363.1:c.5459C>A	XP_016883852.1:p.Ala1820Asp
XM_024452082.1:c.4697C>A	XP_024307850.1:p.Ala1566Asp
XM_024452083.1:c.3593C>A	XP_024307851.1:p.Ala1198Asp
NM_006031.6:c.5780C>A MANE Select	NP_006022.3:p.Ala1927Asp
NM_001315529.2:c.5426C>A	NP_001302458.1:p.Ala1809Asp