Canonical Allele Identifier: CA8273283

Gene: WDR81

Linked Data

• dbSNP Id: rs755638561
• ExAC: 17:1631830 G / C
• gnomAD v2: 17-1631830-G-C
• gnomAD v4: 17-1728536-G-C
• MyVariant Identifiers: chr17:g.1631830G>C (hg19) ; chr17:g.1728536G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1728536G>C , CM000679.2:g.1728536G>C	GRCh38
NC_000017.10:g.1631830G>C , CM000679.1:g.1631830G>C	GRCh37
NC_000017.9:g.1578580G>C	NCBI36
NG_032811.1:g.17014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409644.6:c.3577G>C MANE Select	ENSP00000386609.1:p.Val1193Leu
ENST00000309182.9:c.424G>C	ENSP00000312074.5:p.Val142Leu
ENST00000409644.5:c.3577G>C	ENSP00000386609.1:p.Val1193Leu
ENST00000418841.5:c.-89+3750G>C	ENSP00000395198.1:n.-89+3750G>C
ENST00000419248.5:c.-14-1844G>C	ENSP00000407845.1:n.-14-1844G>C
ENST00000437219.6:c.59-1844G>C	ENSP00000391074.2:n.59-1844G>C
ENST00000446363.5:c.-308-2219G>C	ENSP00000401560.1:n.-308-2219G>C
ENST00000455636.5:c.59-1844G>C	ENSP00000395226.1:n.59-1844G>C
ENST00000464528.5:n.963G>C
ENST00000468539.5:c.63-3789G>C	ENSP00000460742.1:n.63-3789G>C
ENST00000492901.1:n.88-1844G>C
ENST00000575206.1:c.327G>C
NM_001163673.1:c.59-1844G>C	NP_001157145.1:n.59-1844G>C
NM_001163809.1:c.3577G>C	NP_001157281.1:p.Val1193Leu
NM_001163811.1:c.-14-1844G>C	NP_001157283.1:n.-14-1844G>C
NM_152348.3:c.424G>C	NP_689561.2:p.Val142Leu
XM_005256454.2:c.3577G>C	XP_005256511.1:p.Val1193Leu
XM_011523650.1:c.3577G>C	XP_011521952.1:p.Val1193Leu
XM_011523651.1:c.424G>C	XP_011521953.1:p.Val142Leu
XR_933973.1:n.3721G>C
XM_011523651.2:c.424G>C	XP_011521953.1:p.Val142Leu
XM_017024184.1:c.3577G>C	XP_016879673.1:p.Val1193Leu
XR_001752427.1:n.3729G>C
XR_933973.2:n.3729G>C
NM_001163809.2:c.3577G>C MANE Select	NP_001157281.1:p.Val1193Leu
NM_001163811.2:c.-14-1844G>C	NP_001157283.1:n.-14-1844G>C
NM_152348.4:c.424G>C	NP_689561.2:p.Val142Leu
NM_001163673.2:c.59-1844G>C	NP_001157145.1:n.59-1844G>C