Canonical Allele Identifier: CA406970057
Community Standard Title: NM_002691.4(POLD1):c.59G>C (p.Gly20Ala)
Gene: POLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50398910G>C , CM000681.2:g.50398910G>C GRCh38
NC_000019.9:g.50902167G>C , CM000681.1:g.50902167G>C GRCh37
NC_000019.8:g.55593979G>C NCBI36
NG_033800.1:g.19588G>C , LRG_785:g.19588G>C

Transcript Alleles

HGVS Amino-acid Change
NM_002691.4:c.59G>C MANE Select NP_002682.2:p.Gly20Ala
ENST00000440232.7:c.59G>C MANE Select ENSP00000406046.1:p.Gly20Ala
NM_001256849.1:c.59G>C , LRG_785t1:c.59G>C NP_001243778.1:p.Gly20Ala
NM_001308632.1:c.59G>C , LRG_785t2:c.59G>C NP_001295561.1:p.Gly20Ala
NM_002691.3:c.59G>C NP_002682.2:p.Gly20Ala
NR_046402.1:n.128G>C
NR_046402.2:n.104G>C
ENST00000440232.6:c.59G>C ENSP00000406046.1:p.Gly20Ala
ENST00000593887.1:c.59G>C ENSP00000472607.1:p.Gly20Ala
ENST00000593887.2:c.59G>C ENSP00000472607.2:p.Gly20Ala
ENST00000595904.5:c.59G>C ENSP00000472445.1:p.Gly20Ala
ENST00000595904.6:c.59G>C ENSP00000472445.1:p.Gly20Ala
ENST00000599857.5:c.59G>C ENSP00000473052.1:p.Gly20Ala
ENST00000599857.7:c.59G>C ENSP00000473052.1:p.Gly20Ala
ENST00000600746.1:n.84G>C
ENST00000600746.2:n.170G>C
ENST00000600859.5:c.59G>C ENSP00000470726.1:p.Gly20Ala
ENST00000601098.5:c.59G>C ENSP00000472600.1:p.Gly20Ala
ENST00000601098.6:c.59G>C ENSP00000472600.2:p.Gly20Ala
ENST00000613923.4:c.59G>C ENSP00000481858.1:p.Gly20Ala
ENST00000613923.6:c.59G>C ENSP00000481858.2:p.Gly20Ala
ENST00000643407.1:c.59G>C ENSP00000496078.1:p.Gly20Ala
ENST00000644560.2:c.59G>C ENSP00000495618.2:p.Gly20Ala
ENST00000687454.1:c.59G>C ENSP00000510052.1:p.Gly20Ala
XM_005259008.3:c.59G>C XP_005259065.1:p.Gly20Ala
XM_005259008.4:c.59G>C XP_005259065.1:p.Gly20Ala
XM_011527038.1:c.59G>C XP_011525340.1:p.Gly20Ala
XM_011527039.1:c.59G>C XP_011525341.1:p.Gly20Ala
XM_017026881.1:c.59G>C XP_016882370.1:p.Gly20Ala
XM_017026882.2:c.59G>C XP_016882371.1:p.Gly20Ala
XR_935835.1:n.161G>C
XR_935835.2:n.160G>C