Canonical Allele Identifier: CA397546787
Gene: WDR81 HGNC NCBI
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1735640G>C , CM000679.2:g.1735640G>C GRCh38
NC_000017.10:g.1638934G>C , CM000679.1:g.1638934G>C GRCh37
NC_000017.9:g.1585684G>C NCBI36
NG_032811.1:g.24118G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409644.6:c.5248G>C MANE Select ENSP00000386609.1:p.Ala1750Pro
ENST00000309182.9:c.2095G>C ENSP00000312074.5:p.Ala699Pro
ENST00000409644.5:c.5248G>C ENSP00000386609.1:p.Ala1750Pro
ENST00000419248.5:c.1567G>C ENSP00000407845.1:p.Ala523Pro
ENST00000437219.6:c.1639G>C ENSP00000391074.2:p.Ala547Pro
ENST00000446363.5:c.1165G>C ENSP00000401560.1:p.Ala389Pro
ENST00000464528.5:n.2634G>C
NM_001163673.1:c.1639G>C NP_001157145.1:p.Ala547Pro
NM_001163809.1:c.5248G>C NP_001157281.1:p.Ala1750Pro
NM_001163811.1:c.1567G>C NP_001157283.1:p.Ala523Pro
NM_152348.3:c.2095G>C NP_689561.2:p.Ala699Pro
XM_005256454.2:c.*21G>C XP_005256511.1:n.*21G>C
XM_011523651.1:c.2095G>C XP_011521953.1:p.Ala699Pro
XR_933973.1:n.5337G>C
XM_011523651.2:c.2095G>C XP_011521953.1:p.Ala699Pro
XM_017024184.1:c.5248G>C XP_016879673.1:p.Ala1750Pro
XR_001752427.1:n.5414G>C
XR_933973.2:n.5345G>C
NM_001163809.2:c.5248G>C MANE Select NP_001157281.1:p.Ala1750Pro
NM_001163811.2:c.1567G>C NP_001157283.1:p.Ala523Pro
NM_152348.4:c.2095G>C NP_689561.2:p.Ala699Pro
NM_001163673.2:c.1639G>C NP_001157145.1:p.Ala547Pro