Canonical Allele Identifier: CA396780245

Gene: WDR59

Linked Data

• ClinVar Variation Id: 2326230
• ClinVar RCV Id: RCV004165632
• MyVariant Identifiers: chr16:g.74943549C>T (hg19) ; chr16:g.74909651C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74909651C>T , CM000678.2:g.74909651C>T	GRCh38
NC_000016.9:g.74943549C>T , CM000678.1:g.74943549C>T	GRCh37
NC_000016.8:g.73501050C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262144.11:c.1492G>A MANE Select	ENSP00000262144.6:p.Glu498Lys
ENST00000262144.10:c.1492G>A	ENSP00000262144.6:p.Glu498Lys
ENST00000562371.5:n.436G>A
ENST00000569229.5:c.141G>A
ENST00000570070.1:n.85G>A
ENST00000616369.4:c.1492G>A	ENSP00000482446.1:p.Glu498Lys
NM_030581.3:c.1492G>A	NP_085058.3:p.Glu498Lys
XM_005256146.2:c.1492G>A	XP_005256203.1:p.Glu498Lys
XM_011523331.1:c.571G>A	XP_011521633.1:p.Glu191Lys
XM_011523332.1:c.529G>A	XP_011521634.1:p.Glu177Lys
XM_011523333.1:c.529G>A	XP_011521635.1:p.Glu177Lys
XR_933430.1:n.1598G>A
NM_001324171.1:c.1492G>A	NP_001311100.1:p.Glu498Lys
XM_005256146.3:c.1492G>A	XP_005256203.1:p.Glu498Lys
XM_011523332.2:c.529G>A	XP_011521634.1:p.Glu177Lys
XM_017023667.2:c.736G>A	XP_016879156.1:p.Glu246Lys
XM_017023668.2:c.736G>A	XP_016879157.1:p.Glu246Lys
XM_017023669.1:c.571G>A	XP_016879158.1:p.Glu191Lys
XM_017023670.1:c.529G>A	XP_016879159.1:p.Glu177Lys
XM_024450445.1:c.736G>A	XP_024306213.1:p.Glu246Lys
XM_024450446.1:c.571G>A	XP_024306214.1:p.Glu191Lys
XR_933430.2:n.1598G>A
NM_030581.4:c.1492G>A MANE Select	NP_085058.3:p.Glu498Lys
NM_001324171.2:c.1492G>A	NP_001311100.1:p.Glu498Lys