Canonical Allele Identifier: CA8273232

Gene: WDR81

Linked Data

• dbSNP Id: rs376462502
• ExAC: 17:1631620 C / T
• gnomAD v2: 17-1631620-C-T
• gnomAD v3: 17-1728326-C-T
• gnomAD v4: 17-1728326-C-T
• MyVariant Identifiers: chr17:g.1631620C>T (hg19) ; chr17:g.1728326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1728326C>T , CM000679.2:g.1728326C>T	GRCh38
NC_000017.10:g.1631620C>T , CM000679.1:g.1631620C>T	GRCh37
NC_000017.9:g.1578370C>T	NCBI36
NG_032811.1:g.16804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409644.6:c.3367C>T MANE Select	ENSP00000386609.1:p.Arg1123Trp
ENST00000309182.9:c.214C>T	ENSP00000312074.5:p.Arg72Trp
ENST00000409644.5:c.3367C>T	ENSP00000386609.1:p.Arg1123Trp
ENST00000418841.5:c.-89+3540C>T	ENSP00000395198.1:n.-89+3540C>T
ENST00000419248.5:c.-14-2054C>T	ENSP00000407845.1:n.-14-2054C>T
ENST00000437219.6:c.59-2054C>T	ENSP00000391074.2:n.59-2054C>T
ENST00000446363.5:c.-308-2429C>T	ENSP00000401560.1:n.-308-2429C>T
ENST00000455636.5:c.59-2054C>T	ENSP00000395226.1:n.59-2054C>T
ENST00000464528.5:n.753C>T
ENST00000468539.5:c.63-3999C>T	ENSP00000460742.1:n.63-3999C>T
ENST00000492901.1:n.88-2054C>T
ENST00000575206.1:c.117C>T
NM_001163673.1:c.59-2054C>T	NP_001157145.1:n.59-2054C>T
NM_001163809.1:c.3367C>T	NP_001157281.1:p.Arg1123Trp
NM_001163811.1:c.-14-2054C>T	NP_001157283.1:n.-14-2054C>T
NM_152348.3:c.214C>T	NP_689561.2:p.Arg72Trp
XM_005256454.2:c.3367C>T	XP_005256511.1:p.Arg1123Trp
XM_011523650.1:c.3367C>T	XP_011521952.1:p.Arg1123Trp
XM_011523651.1:c.214C>T	XP_011521953.1:p.Arg72Trp
XR_933973.1:n.3511C>T
XM_011523651.2:c.214C>T	XP_011521953.1:p.Arg72Trp
XM_017024184.1:c.3367C>T	XP_016879673.1:p.Arg1123Trp
XR_001752427.1:n.3519C>T
XR_933973.2:n.3519C>T
NM_001163809.2:c.3367C>T MANE Select	NP_001157281.1:p.Arg1123Trp
NM_001163811.2:c.-14-2054C>T	NP_001157283.1:n.-14-2054C>T
NM_152348.4:c.214C>T	NP_689561.2:p.Arg72Trp
NM_001163673.2:c.59-2054C>T	NP_001157145.1:n.59-2054C>T