Canonical Allele Identifier: CA396848231

Gene: WDR59

Linked Data

• ClinVar Variation Id: 2541958
• ClinVar RCV Id: RCV004314060
• gnomAD v4: 16-74965821-G-A
• MyVariant Identifiers: chr16:g.74999719G>A (hg19) ; chr16:g.74965821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74965821G>A , CM000678.2:g.74965821G>A	GRCh38
NC_000016.9:g.74999719G>A , CM000678.1:g.74999719G>A	GRCh37
NC_000016.8:g.73557220G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262144.11:c.56C>T MANE Select	ENSP00000262144.6:p.Ala19Val
ENST00000262144.10:c.56C>T	ENSP00000262144.6:p.Ala19Val
ENST00000536050.5:c.-8C>T	ENSP00000481730.1:n.-8C>T
ENST00000562331.5:n.204C>T
ENST00000563111.2:c.-8C>T	ENSP00000456139.1:n.-8C>T
ENST00000564859.1:c.56C>T	ENSP00000457605.1:p.Ala19Val
ENST00000568323.5:n.153C>T
ENST00000569421.2:n.2C>T
ENST00000616369.4:c.56C>T	ENSP00000482446.1:p.Ala19Val
NM_030581.3:c.56C>T	NP_085058.3:p.Ala19Val
XM_005256146.2:c.56C>T	XP_005256203.1:p.Ala19Val
XM_011523331.1:c.-786C>T	XP_011521633.1:n.-786C>T
XR_933430.1:n.162C>T
NM_001324171.1:c.56C>T	NP_001311100.1:p.Ala19Val
NM_001324172.1:c.56C>T	NP_001311101.1:p.Ala19Val
XM_005256146.3:c.56C>T	XP_005256203.1:p.Ala19Val
XM_017023667.2:c.-718C>T	XP_016879156.1:n.-718C>T
XM_017023668.2:c.-476C>T	XP_016879157.1:n.-476C>T
XM_017023669.1:c.-650C>T	XP_016879158.1:n.-650C>T
XR_933430.2:n.162C>T
NM_030581.4:c.56C>T MANE Select	NP_085058.3:p.Ala19Val
NM_001324171.2:c.56C>T	NP_001311100.1:p.Ala19Val
NM_001324172.2:c.56C>T	NP_001311101.1:p.Ala19Val