Canonical Allele Identifier: CA397594818
Gene: WDR81 HGNC NCBI

Linked Data

gnomAD v4: 17-1728551-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1728551A>T , CM000679.2:g.1728551A>T GRCh38
NC_000017.10:g.1631845A>T , CM000679.1:g.1631845A>T GRCh37
NC_000017.9:g.1578595A>T NCBI36
NG_032811.1:g.17029A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409644.6:c.3592A>T MANE Select ENSP00000386609.1:p.Ser1198Cys
ENST00000309182.9:c.439A>T ENSP00000312074.5:p.Ser147Cys
ENST00000409644.5:c.3592A>T ENSP00000386609.1:p.Ser1198Cys
ENST00000418841.5:c.-89+3765A>T ENSP00000395198.1:n.-89+3765A>T
ENST00000419248.5:c.-14-1829A>T ENSP00000407845.1:n.-14-1829A>T
ENST00000437219.6:c.59-1829A>T ENSP00000391074.2:n.59-1829A>T
ENST00000446363.5:c.-308-2204A>T ENSP00000401560.1:n.-308-2204A>T
ENST00000455636.5:c.59-1829A>T ENSP00000395226.1:n.59-1829A>T
ENST00000464528.5:n.978A>T
ENST00000468539.5:c.63-3774A>T ENSP00000460742.1:n.63-3774A>T
ENST00000492901.1:n.88-1829A>T
ENST00000575206.1:c.342A>T
NM_001163673.1:c.59-1829A>T NP_001157145.1:n.59-1829A>T
NM_001163809.1:c.3592A>T NP_001157281.1:p.Ser1198Cys
NM_001163811.1:c.-14-1829A>T NP_001157283.1:n.-14-1829A>T
NM_152348.3:c.439A>T NP_689561.2:p.Ser147Cys
XM_005256454.2:c.3592A>T XP_005256511.1:p.Ser1198Cys
XM_011523650.1:c.3592A>T XP_011521952.1:p.Ser1198Cys
XM_011523651.1:c.439A>T XP_011521953.1:p.Ser147Cys
XR_933973.1:n.3736A>T
XM_011523651.2:c.439A>T XP_011521953.1:p.Ser147Cys
XM_017024184.1:c.3592A>T XP_016879673.1:p.Ser1198Cys
XR_001752427.1:n.3744A>T
XR_933973.2:n.3744A>T
NM_001163809.2:c.3592A>T MANE Select NP_001157281.1:p.Ser1198Cys
NM_001163811.2:c.-14-1829A>T NP_001157283.1:n.-14-1829A>T
NM_152348.4:c.439A>T NP_689561.2:p.Ser147Cys
NM_001163673.2:c.59-1829A>T NP_001157145.1:n.59-1829A>T