Canonical Allele Identifier: CA173029

Gene: PCNT

Linked Data

• ClinVar Variation Id: 138618
• ClinVar RCV Id: RCV000147147 ; RCV000311658
• dbSNP Id: rs80017051
• ExAC: 21:47744202 C / T
• gnomAD v2: 21-47744202-C-T
• gnomAD v3: 21-46324288-C-T
• gnomAD v4: 21-46324288-C-T
• MyVariant Identifiers: chr21:g.47744202C>T (hg19) ; chr21:g.47744202_47744205delinsTATT (hg19) ; chr21:g.46324288C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46324288C>T , CM000683.2:g.46324288C>T	GRCh38
NC_000021.8:g.47744202C>T , CM000683.1:g.47744202C>T	GRCh37
NC_000021.7:g.46568630C>T	NCBI36
NG_008961.1:g.5167C>T
NG_008961.2:g.5167C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000466474.6:c.54+6C>T	ENSP00000511987.1:n.54+6C>T
ENST00000695525.1:n.140+6C>T
ENST00000695526.1:c.54+6C>T	ENSP00000511988.1:n.54+6C>T
ENST00000695558.1:c.54+6C>T	ENSP00000512015.1:n.54+6C>T
ENST00000703224.1:c.54+6C>T	ENSP00000515242.1:n.54+6C>T
ENST00000359568.10:c.54+6C>T MANE Select	ENSP00000352572.5:n.54+6C>T
ENST00000359568.9:c.54+6C>T	ENSP00000352572.5:n.54+6C>T
ENST00000490468.5:n.142+6C>T
NM_006031.5:c.54+6C>T	NP_006022.3:n.54+6C>T
XM_005261124.3:c.54+6C>T	XP_005261181.1:n.54+6C>T
XM_011529593.1:c.54+6C>T	XP_011527895.1:n.54+6C>T
XM_011529594.1:c.54+6C>T	XP_011527896.1:n.54+6C>T
XM_005261124.5:c.54+6C>T	XP_005261181.1:n.54+6C>T
XM_011529594.3:c.54+6C>T	XP_011527896.1:n.54+6C>T
XM_017028362.2:c.54+6C>T	XP_016883851.1:n.54+6C>T
XM_024452083.1:c.-2055+6C>T	XP_024307851.1:n.-2055+6C>T
NM_006031.6:c.54+6C>T MANE Select	NP_006022.3:n.54+6C>T