Canonical Allele Identifier: CA512734497

Gene: PCNT

Linked Data

• gnomAD v4: 21-46367073-C-T
• MyVariant Identifiers: chr21:g.47786988C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367073C>T , CM000683.2:g.46367073C>T	GRCh38
NC_000021.8:g.47786988C>T , CM000683.1:g.47786988C>T	GRCh37
NC_000021.7:g.46611416C>T	NCBI36
NG_008961.1:g.47953C>T
NG_008961.2:g.47952C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1595C>T	ENSP00000511987.1:n.*1595C>T
ENST00000695525.1:n.3185C>T
ENST00000695558.1:c.3099C>T	ENSP00000512015.1:p.His1033=
ENST00000703224.1:c.*2342C>T	ENSP00000515242.1:n.*2342C>T
ENST00000359568.10:c.3099C>T MANE Select	ENSP00000352572.5:p.His1033=
ENST00000359568.9:c.3099C>T	ENSP00000352572.5:p.His1033=
ENST00000480896.5:n.3368C>T
NM_001315529.1:c.2745C>T	NP_001302458.1:p.His915=
NM_006031.5:c.3099C>T	NP_006022.3:p.His1033=
XM_005261124.3:c.3099C>T	XP_005261181.1:p.His1033=
XM_011529593.1:c.3180C>T	XP_011527895.1:p.His1060=
XM_011529594.1:c.3180C>T	XP_011527896.1:p.His1060=
XM_005261124.5:c.3099C>T	XP_005261181.1:p.His1033=
XM_011529594.3:c.3180C>T	XP_011527896.1:p.His1060=
XM_017028362.2:c.3099C>T	XP_016883851.1:p.His1033=
XM_017028363.1:c.2745C>T	XP_016883852.1:p.His915=
XM_024452082.1:c.1983C>T	XP_024307850.1:p.His661=
XM_024452083.1:c.879C>T	XP_024307851.1:p.His293=
NM_006031.6:c.3099C>T MANE Select	NP_006022.3:p.His1033=
NM_001315529.2:c.2745C>T	NP_001302458.1:p.His915=