Canonical Allele Identifier: CA148452

Gene: PCNT

Linked Data

• ClinVar Variation Id: 95342
• ClinVar RCV Id: RCV000081359 ; RCV000613080 ; RCV000971344
• dbSNP Id: rs149444205
• ExAC: 21:47855812 A / C
• gnomAD v2: 21-47855812-A-C
• gnomAD v3: 21-46435899-A-C
• gnomAD v4: 21-46435899-A-C
• MyVariant Identifiers: chr21:g.47855812A>C (hg19) ; chr21:g.46435899A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46435899A>C , CM000683.2:g.46435899A>C	GRCh38
NC_000021.8:g.47855812A>C , CM000683.1:g.47855812A>C	GRCh37
NC_000021.7:g.46680240A>C	NCBI36
NG_008961.1:g.116777A>C
NG_008961.2:g.116778A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000418394.2:c.1334-5A>C
ENST00000695527.1:n.3097-5A>C
ENST00000695528.1:c.2785-5A>C	ENSP00000511990.1:n.2785-5A>C
ENST00000695529.1:n.2548-5A>C
ENST00000695530.1:c.1334-5A>C
ENST00000695531.1:n.2354-5A>C
ENST00000695532.1:n.2354-5A>C
ENST00000695533.1:n.1422-5A>C
ENST00000695534.1:n.1146-5A>C
ENST00000695535.1:n.222A>C
ENST00000695558.1:c.8785-5A>C	ENSP00000512015.1:n.8785-5A>C
ENST00000703224.1:c.*7995-5A>C	ENSP00000515242.1:n.*7995-5A>C
ENST00000703226.1:n.1422-5A>C
ENST00000359568.10:c.8752-5A>C MANE Select	ENSP00000352572.5:n.8752-5A>C
ENST00000359568.9:c.8752-5A>C	ENSP00000352572.5:n.8752-5A>C
ENST00000480896.5:n.8784-5A>C
NM_001315529.1:c.8161-5A>C	NP_001302458.1:n.8161-5A>C
NM_006031.5:c.8752-5A>C	NP_006022.3:n.8752-5A>C
XM_005261124.3:c.8785-5A>C	XP_005261181.1:n.8785-5A>C
XM_011529593.1:c.8863-5A>C	XP_011527895.1:n.8863-5A>C
XM_011529594.1:c.8833-5A>C	XP_011527896.1:n.8833-5A>C
XM_005261124.5:c.8785-5A>C	XP_005261181.1:n.8785-5A>C
XM_011529594.3:c.8833-5A>C	XP_011527896.1:n.8833-5A>C
XM_017028362.2:c.8515-5A>C	XP_016883851.1:n.8515-5A>C
XM_017028363.1:c.8431-5A>C	XP_016883852.1:n.8431-5A>C
XM_024452082.1:c.7669-5A>C	XP_024307850.1:n.7669-5A>C
XM_024452083.1:c.6565-5A>C	XP_024307851.1:n.6565-5A>C
NM_006031.6:c.8752-5A>C MANE Select	NP_006022.3:n.8752-5A>C
NM_001315529.2:c.8161-5A>C	NP_001302458.1:n.8161-5A>C