Canonical Allele Identifier: CA186048

Gene: WDR81

Linked Data

• ClinVar Variation Id: 183290
• ClinVar RCV Id: RCV000162111 ; RCV000171248 ; RCV000660890 ; RCV003987381
• dbSNP Id: rs730882206
• MyVariant Identifiers: chr17:g.1629098G>A (hg19) ; chr17:g.1725804G>A (hg38)
• PubMed: PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1725804G>A , CM000679.2:g.1725804G>A	GRCh38
NC_000017.10:g.1629098G>A , CM000679.1:g.1629098G>A	GRCh37
NC_000017.9:g.1575848G>A	NCBI36
NG_032811.1:g.14282G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409644.6:c.845G>A MANE Select	ENSP00000386609.1:p.Gly282Glu
ENST00000309182.9:c.-123-2186G>A	ENSP00000312074.5:n.-123-2186G>A
ENST00000409644.5:c.845G>A	ENSP00000386609.1:p.Gly282Glu
ENST00000418841.5:c.-89+1018G>A	ENSP00000395198.1:n.-89+1018G>A
ENST00000419248.5:c.-15+1018G>A	ENSP00000407845.1:n.-15+1018G>A
ENST00000437219.6:c.59-4576G>A	ENSP00000391074.2:n.59-4576G>A
ENST00000446363.5:c.-308-4951G>A	ENSP00000401560.1:n.-308-4951G>A
ENST00000455636.5:c.59-4576G>A	ENSP00000395226.1:n.59-4576G>A
ENST00000468539.5:c.63-6521G>A	ENSP00000460742.1:n.63-6521G>A
ENST00000492901.1:n.88-4576G>A
NM_001163673.1:c.59-4576G>A	NP_001157145.1:n.59-4576G>A
NM_001163809.1:c.845G>A	NP_001157281.1:p.Gly282Glu
NM_001163811.1:c.-15+1018G>A	NP_001157283.1:n.-15+1018G>A
NM_152348.3:c.-123-2186G>A	NP_689561.2:n.-123-2186G>A
XM_005256454.2:c.845G>A	XP_005256511.1:p.Gly282Glu
XM_011523650.1:c.845G>A	XP_011521952.1:p.Gly282Glu
XM_011523651.1:c.-124+1018G>A	XP_011521953.1:n.-124+1018G>A
XR_933973.1:n.989G>A
XM_011523651.2:c.-124+1018G>A	XP_011521953.1:n.-124+1018G>A
XM_017024184.1:c.845G>A	XP_016879673.1:p.Gly282Glu
XR_001752427.1:n.997G>A
XR_933973.2:n.997G>A
NM_001163809.2:c.845G>A MANE Select	NP_001157281.1:p.Gly282Glu
NM_001163811.2:c.-15+1018G>A	NP_001157283.1:n.-15+1018G>A
NM_152348.4:c.-123-2186G>A	NP_689561.2:n.-123-2186G>A
NM_001163673.2:c.59-4576G>A	NP_001157145.1:n.59-4576G>A