Canonical Allele Identifier: CA397593572

Gene: WDR81

Linked Data

• dbSNP Id: rs138025488
• gnomAD v4: 17-1728242-C-T
• MyVariant Identifiers: chr17:g.1631536C>T (hg19) ; chr17:g.1728242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1728242C>T , CM000679.2:g.1728242C>T	GRCh38
NC_000017.10:g.1631536C>T , CM000679.1:g.1631536C>T	GRCh37
NC_000017.9:g.1578286C>T	NCBI36
NG_032811.1:g.16720C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409644.6:c.3283C>T MANE Select	ENSP00000386609.1:p.Pro1095Ser
ENST00000309182.9:c.130C>T	ENSP00000312074.5:p.Pro44Ser
ENST00000409644.5:c.3283C>T	ENSP00000386609.1:p.Pro1095Ser
ENST00000418841.5:c.-89+3456C>T	ENSP00000395198.1:n.-89+3456C>T
ENST00000419248.5:c.-14-2138C>T	ENSP00000407845.1:n.-14-2138C>T
ENST00000437219.6:c.59-2138C>T	ENSP00000391074.2:n.59-2138C>T
ENST00000446363.5:c.-308-2513C>T	ENSP00000401560.1:n.-308-2513C>T
ENST00000455636.5:c.59-2138C>T	ENSP00000395226.1:n.59-2138C>T
ENST00000464528.5:n.669C>T
ENST00000468539.5:c.63-4083C>T	ENSP00000460742.1:n.63-4083C>T
ENST00000492901.1:n.88-2138C>T
ENST00000575206.1:c.33C>T
NM_001163673.1:c.59-2138C>T	NP_001157145.1:n.59-2138C>T
NM_001163809.1:c.3283C>T	NP_001157281.1:p.Pro1095Ser
NM_001163811.1:c.-14-2138C>T	NP_001157283.1:n.-14-2138C>T
NM_152348.3:c.130C>T	NP_689561.2:p.Pro44Ser
XM_005256454.2:c.3283C>T	XP_005256511.1:p.Pro1095Ser
XM_011523650.1:c.3283C>T	XP_011521952.1:p.Pro1095Ser
XM_011523651.1:c.130C>T	XP_011521953.1:p.Pro44Ser
XR_933973.1:n.3427C>T
XM_011523651.2:c.130C>T	XP_011521953.1:p.Pro44Ser
XM_017024184.1:c.3283C>T	XP_016879673.1:p.Pro1095Ser
XR_001752427.1:n.3435C>T
XR_933973.2:n.3435C>T
NM_001163809.2:c.3283C>T MANE Select	NP_001157281.1:p.Pro1095Ser
NM_001163811.2:c.-14-2138C>T	NP_001157283.1:n.-14-2138C>T
NM_152348.4:c.130C>T	NP_689561.2:p.Pro44Ser
NM_001163673.2:c.59-2138C>T	NP_001157145.1:n.59-2138C>T