Canonical Allele Identifier: CA309606000
Community Standard Title: NM_002691.4(POLD1):c.-2+19G>A
Gene: POLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50384409G>A , CM000681.2:g.50384409G>A GRCh38
NC_000019.9:g.50887666G>A , CM000681.1:g.50887666G>A GRCh37
NC_000019.8:g.55579478G>A NCBI36
NG_033800.1:g.5087G>A , LRG_785:g.5087G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002691.4:c.-2+19G>A MANE Select NP_002682.2:n.-2+19G>A
ENST00000440232.7:c.-2+19G>A MANE Select ENSP00000406046.1:n.-2+19G>A
NM_001256849.1:c.-5+19G>A , LRG_785t1:c.-5+19G>A NP_001243778.1:n.-5+19G>A
NM_002691.3:c.-2+19G>A NP_002682.2:n.-2+19G>A
NR_046402.1:n.68+19G>A
NR_046402.2:n.44+19G>A
ENST00000440232.6:c.-2+19G>A ENSP00000406046.1:n.-2+19G>A
ENST00000593887.1:c.-362+19G>A ENSP00000472607.1:n.-362+19G>A
ENST00000593887.2:c.-362+19G>A ENSP00000472607.2:n.-362+19G>A
ENST00000595904.6:c.-2+19G>A ENSP00000472445.1:n.-2+19G>A
ENST00000599857.5:c.-5+19G>A ENSP00000473052.1:n.-5+19G>A
ENST00000599857.7:c.-5+19G>A ENSP00000473052.1:n.-5+19G>A
ENST00000600746.1:n.24+19G>A
ENST00000600746.2:n.110+19G>A
ENST00000600859.5:c.-2+19G>A ENSP00000470726.1:n.-2+19G>A
ENST00000601098.5:c.-128+19G>A ENSP00000472600.1:n.-128+19G>A
ENST00000601098.6:c.-128+19G>A ENSP00000472600.2:n.-128+19G>A
ENST00000613923.4:c.-2+19G>A ENSP00000481858.1:n.-2+19G>A
ENST00000613923.6:c.-5+19G>A ENSP00000481858.2:n.-5+19G>A
ENST00000643407.1:c.-128+19G>A ENSP00000496078.1:n.-128+19G>A
XM_005259008.3:c.-2+19G>A XP_005259065.1:n.-2+19G>A
XM_005259008.4:c.-2+19G>A XP_005259065.1:n.-2+19G>A
XM_017026882.2:c.-5+19G>A XP_016882371.1:n.-5+19G>A
XR_935835.1:n.101+19G>A
XR_935835.2:n.100+19G>A