Canonical Allele Identifier: CA397594731
Gene: WDR81 HGNC NCBI

Linked Data

dbSNP Id: rs1207277771
gnomAD v2: 17-1631816-T-G
gnomAD v3: 17-1728522-T-G
gnomAD v4: 17-1728522-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1728522T>G , CM000679.2:g.1728522T>G GRCh38
NC_000017.10:g.1631816T>G , CM000679.1:g.1631816T>G GRCh37
NC_000017.9:g.1578566T>G NCBI36
NG_032811.1:g.17000T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409644.6:c.3563T>G MANE Select ENSP00000386609.1:p.Leu1188Arg
ENST00000309182.9:c.410T>G ENSP00000312074.5:p.Leu137Arg
ENST00000409644.5:c.3563T>G ENSP00000386609.1:p.Leu1188Arg
ENST00000418841.5:c.-89+3736T>G ENSP00000395198.1:n.-89+3736T>G
ENST00000419248.5:c.-14-1858T>G ENSP00000407845.1:n.-14-1858T>G
ENST00000437219.6:c.59-1858T>G ENSP00000391074.2:n.59-1858T>G
ENST00000446363.5:c.-308-2233T>G ENSP00000401560.1:n.-308-2233T>G
ENST00000455636.5:c.59-1858T>G ENSP00000395226.1:n.59-1858T>G
ENST00000464528.5:n.949T>G
ENST00000468539.5:c.63-3803T>G ENSP00000460742.1:n.63-3803T>G
ENST00000492901.1:n.88-1858T>G
ENST00000575206.1:c.313T>G
NM_001163673.1:c.59-1858T>G NP_001157145.1:n.59-1858T>G
NM_001163809.1:c.3563T>G NP_001157281.1:p.Leu1188Arg
NM_001163811.1:c.-14-1858T>G NP_001157283.1:n.-14-1858T>G
NM_152348.3:c.410T>G NP_689561.2:p.Leu137Arg
XM_005256454.2:c.3563T>G XP_005256511.1:p.Leu1188Arg
XM_011523650.1:c.3563T>G XP_011521952.1:p.Leu1188Arg
XM_011523651.1:c.410T>G XP_011521953.1:p.Leu137Arg
XR_933973.1:n.3707T>G
XM_011523651.2:c.410T>G XP_011521953.1:p.Leu137Arg
XM_017024184.1:c.3563T>G XP_016879673.1:p.Leu1188Arg
XR_001752427.1:n.3715T>G
XR_933973.2:n.3715T>G
NM_001163809.2:c.3563T>G MANE Select NP_001157281.1:p.Leu1188Arg
NM_001163811.2:c.-14-1858T>G NP_001157283.1:n.-14-1858T>G
NM_152348.4:c.410T>G NP_689561.2:p.Leu137Arg
NM_001163673.2:c.59-1858T>G NP_001157145.1:n.59-1858T>G