Canonical Allele Identifier: CA155981

Gene: WDR81

Linked Data

• ClinVar Variation Id: 130738
• ClinVar RCV Id: RCV000118854
• dbSNP Id: rs12150338
• ExAC: 17:1634104 C / T
• gnomAD v2: 17-1634104-C-T
• gnomAD v3: 17-1730810-C-T
• gnomAD v4: 17-1730810-C-T
• MyVariant Identifiers: chr17:g.1634104C>T (hg19) ; chr17:g.1730810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1730810C>T , CM000679.2:g.1730810C>T	GRCh38
NC_000017.10:g.1634104C>T , CM000679.1:g.1634104C>T	GRCh37
NC_000017.9:g.1580854C>T	NCBI36
NG_032811.1:g.19288C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409644.6:c.3831C>T MANE Select	ENSP00000386609.1:p.Ala1277=
ENST00000309182.9:c.678C>T	ENSP00000312074.5:p.Ala226=
ENST00000409644.5:c.3831C>T	ENSP00000386609.1:p.Ala1277=
ENST00000418841.5:c.-88-1515C>T	ENSP00000395198.1:n.-88-1515C>T
ENST00000419248.5:c.150C>T	ENSP00000407845.1:p.Ala50=
ENST00000437219.6:c.222C>T	ENSP00000391074.2:p.Ala74=
ENST00000446363.5:c.-253C>T	ENSP00000401560.1:n.-253C>T
ENST00000455636.5:c.222C>T	ENSP00000395226.1:p.Ala74=
ENST00000464528.5:n.1217C>T
ENST00000468539.5:c.63-1515C>T	ENSP00000460742.1:n.63-1515C>T
ENST00000474958.2:c.83C>T
ENST00000479966.1:n.340C>T
ENST00000492901.1:n.518C>T
ENST00000575206.1:c.473C>T
NM_001163673.1:c.222C>T	NP_001157145.1:p.Ala74=
NM_001163809.1:c.3831C>T	NP_001157281.1:p.Ala1277=
NM_001163811.1:c.150C>T	NP_001157283.1:p.Ala50=
NM_152348.3:c.678C>T	NP_689561.2:p.Ala226=
XM_005256454.2:c.3831C>T	XP_005256511.1:p.Ala1277=
XM_011523650.1:c.3831C>T	XP_011521952.1:p.Ala1277=
XM_011523651.1:c.678C>T	XP_011521953.1:p.Ala226=
XR_933973.1:n.3975C>T
XM_011523651.2:c.678C>T	XP_011521953.1:p.Ala226=
XM_017024184.1:c.3831C>T	XP_016879673.1:p.Ala1277=
XR_001752427.1:n.3983C>T
XR_933973.2:n.3983C>T
NM_001163809.2:c.3831C>T MANE Select	NP_001157281.1:p.Ala1277=
NM_001163811.2:c.150C>T	NP_001157283.1:p.Ala50=
NM_152348.4:c.678C>T	NP_689561.2:p.Ala226=
NM_001163673.2:c.222C>T	NP_001157145.1:p.Ala74=