Allele Registry

Canonical Allele Identifier: CA13444685

Gene: POLD3 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN19617249 (not active)

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr11:g.74634505T>G

GRCh37 chr11:g.74345550T>G

Linked Data - Sequence & Population

gnomAD v2:

11:74345550 T / G

gnomAD v3:

11:74634505 T / G

gnomAD v4:

chr11-74634505-T-G

Joint Max Group AF 0.50851598 (NFE)

Genomes Max Group AF 0.50622892 (NFE)

Exomes Max Group AF 0.50828381 (NFE)

Linked Data - NCBI & NCI

dbSNP:

3824999

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74634505T>G , CM000673.2:g.74634505T>G	GRCh38
NC_000011.9:g.74345550T>G , CM000673.1:g.74345550T>G	GRCh37
NC_000011.8:g.74023198T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263681.7:c.1007-78T>G MANE Select	ENSP00000263681.2:n.1007-78T>G
ENST00000263681.6:c.1007-78T>G	ENSP00000263681.2:n.1007-78T>G
ENST00000524752.1:c.178-78T>G
ENST00000527458.5:c.890-78T>G	ENSP00000432951.1:n.890-78T>G
ENST00000530163.1:n.462-78T>G
ENST00000532497.5:c.689-78T>G	ENSP00000436018.1:n.689-78T>G
NM_006591.2:c.1007-78T>G	NP_006582.1:n.1007-78T>G
NR_046409.1:n.1033-78T>G
NR_046410.1:n.1380-78T>G
XM_005273716.1:c.1007-78T>G	XP_005273773.1:n.1007-78T>G
XM_011544734.1:c.953-78T>G	XP_011543036.1:n.953-78T>G
NM_001363597.1:c.890-78T>G	NP_001350526.1:n.890-78T>G
XM_011544734.3:c.953-78T>G	XP_011543036.1:n.953-78T>G
NM_001363597.2:c.890-78T>G	NP_001350526.1:n.890-78T>G
NM_006591.3:c.1007-78T>G MANE Select	NP_006582.1:n.1007-78T>G
NR_046409.2:n.981-78T>G
NR_046410.2:n.1403-78T>G

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