Canonical Allele Identifier: CA497394995
Gene: WDR81 HGNC NCBI

Linked Data

dbSNP Id: rs1915461139
gnomAD v3: 17-1728526-C-T
gnomAD v4: 17-1728526-C-T
MyVariant Identifiers: chr17:g.1631820C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1728526C>T , CM000679.2:g.1728526C>T GRCh38
NC_000017.10:g.1631820C>T , CM000679.1:g.1631820C>T GRCh37
NC_000017.9:g.1578570C>T NCBI36
NG_032811.1:g.17004C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409644.6:c.3567C>T MANE Select ENSP00000386609.1:p.Ser1189=
ENST00000309182.9:c.414C>T ENSP00000312074.5:p.Ser138=
ENST00000409644.5:c.3567C>T ENSP00000386609.1:p.Ser1189=
ENST00000418841.5:c.-89+3740C>T ENSP00000395198.1:n.-89+3740C>T
ENST00000419248.5:c.-14-1854C>T ENSP00000407845.1:n.-14-1854C>T
ENST00000437219.6:c.59-1854C>T ENSP00000391074.2:n.59-1854C>T
ENST00000446363.5:c.-308-2229C>T ENSP00000401560.1:n.-308-2229C>T
ENST00000455636.5:c.59-1854C>T ENSP00000395226.1:n.59-1854C>T
ENST00000464528.5:n.953C>T
ENST00000468539.5:c.63-3799C>T ENSP00000460742.1:n.63-3799C>T
ENST00000492901.1:n.88-1854C>T
ENST00000575206.1:c.317C>T
NM_001163673.1:c.59-1854C>T NP_001157145.1:n.59-1854C>T
NM_001163809.1:c.3567C>T NP_001157281.1:p.Ser1189=
NM_001163811.1:c.-14-1854C>T NP_001157283.1:n.-14-1854C>T
NM_152348.3:c.414C>T NP_689561.2:p.Ser138=
XM_005256454.2:c.3567C>T XP_005256511.1:p.Ser1189=
XM_011523650.1:c.3567C>T XP_011521952.1:p.Ser1189=
XM_011523651.1:c.414C>T XP_011521953.1:p.Ser138=
XR_933973.1:n.3711C>T
XM_011523651.2:c.414C>T XP_011521953.1:p.Ser138=
XM_017024184.1:c.3567C>T XP_016879673.1:p.Ser1189=
XR_001752427.1:n.3719C>T
XR_933973.2:n.3719C>T
NM_001163809.2:c.3567C>T MANE Select NP_001157281.1:p.Ser1189=
NM_001163811.2:c.-14-1854C>T NP_001157283.1:n.-14-1854C>T
NM_152348.4:c.414C>T NP_689561.2:p.Ser138=
NM_001163673.2:c.59-1854C>T NP_001157145.1:n.59-1854C>T