Canonical Allele Identifier: CA354996
Community Standard Title: NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)
Gene: WDR81 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1731098C>T , CM000679.2:g.1731098C>T GRCh38
NC_000017.10:g.1634392C>T , CM000679.1:g.1634392C>T GRCh37
NC_000017.9:g.1581142C>T NCBI36
NG_032811.1:g.19576C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001163809.2:c.3997C>T MANE Select NP_001157281.1:p.Arg1333Ter
ENST00000409644.6:c.3997C>T MANE Select ENSP00000386609.1:p.Arg1333Ter
NM_001163673.1:c.388C>T NP_001157145.1:p.Arg130Ter
NM_001163673.2:c.388C>T NP_001157145.1:p.Arg130Ter
NM_001163809.1:c.3997C>T NP_001157281.1:p.Arg1333Ter
NM_001163811.1:c.316C>T NP_001157283.1:p.Arg106Ter
NM_001163811.2:c.316C>T NP_001157283.1:p.Arg106Ter
NM_152348.3:c.844C>T NP_689561.2:p.Arg282Ter
NM_152348.4:c.844C>T NP_689561.2:p.Arg282Ter
ENST00000309182.9:c.844C>T ENSP00000312074.5:p.Arg282Ter
ENST00000409644.5:c.3997C>T ENSP00000386609.1:p.Arg1333Ter
ENST00000418841.5:c.-88-1227C>T ENSP00000395198.1:n.-88-1227C>T
ENST00000419248.5:c.316C>T ENSP00000407845.1:p.Arg106Ter
ENST00000437219.6:c.388C>T ENSP00000391074.2:p.Arg130Ter
ENST00000446363.5:c.-87C>T ENSP00000401560.1:n.-87C>T
ENST00000455636.5:c.388C>T ENSP00000395226.1:p.Arg130Ter
ENST00000464528.5:n.1383C>T
ENST00000468539.5:c.63-1227C>T ENSP00000460742.1:n.63-1227C>T
ENST00000474958.2:c.218+153C>T
ENST00000479966.1:n.506C>T
XM_005256454.2:c.3997C>T XP_005256511.1:p.Arg1333Ter
XM_011523650.1:c.3997C>T XP_011521952.1:p.Arg1333Ter
XM_011523651.1:c.844C>T XP_011521953.1:p.Arg282Ter
XM_011523651.2:c.844C>T XP_011521953.1:p.Arg282Ter
XM_017024184.1:c.3997C>T XP_016879673.1:p.Arg1333Ter
XR_001752427.1:n.4149C>T
XR_933973.1:n.4141C>T
XR_933973.2:n.4149C>T