Canonical Allele Identifier: CA9396166

Gene: WDR62

Linked Data

• dbSNP Id: rs563536911
• ExAC: 19:36592966 G / C
• gnomAD v2: 19-36592966-G-C
• gnomAD v3: 19-36102064-G-C
• gnomAD v4: 19-36102064-G-C
• MyVariant Identifiers: chr19:g.36592966G>C (hg19) ; chr19:g.36102064G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36102064G>C , CM000681.2:g.36102064G>C	GRCh38
NC_000019.9:g.36592966G>C , CM000681.1:g.36592966G>C	GRCh37
NC_000019.8:g.41284806G>C	NCBI36
NG_028101.1:g.52184G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3133G>C	ENSP00000270301.6:p.Val1045Leu
ENST00000401500.7:c.3133G>C MANE Select	ENSP00000384792.1:p.Val1045Leu
ENST00000587391.6:c.*2408G>C	ENSP00000465525.1:n.*2408G>C
ENST00000679357.1:c.923G>C
ENST00000679422.1:c.812G>C
ENST00000679682.1:c.3118G>C	ENSP00000506226.1:p.Val1040Leu
ENST00000679714.1:c.3127G>C	ENSP00000506627.1:p.Val1043Leu
ENST00000679757.1:c.2782G>C	ENSP00000505158.1:p.Val928Leu
ENST00000679858.1:c.*2515G>C	ENSP00000505655.1:n.*2515G>C
ENST00000680211.1:c.-267G>C	ENSP00000506102.1:n.-267G>C
ENST00000680349.1:n.1116G>C
ENST00000680403.1:c.3133G>C	ENSP00000505677.1:p.Val1045Leu
ENST00000680564.1:c.2972-673G>C	ENSP00000505582.1:n.2972-673G>C
ENST00000680590.1:c.*1528G>C	ENSP00000505350.1:n.*1528G>C
ENST00000680739.1:c.51G>C
ENST00000680773.1:n.1049G>C
ENST00000680806.1:c.*1851G>C	ENSP00000506418.1:n.*1851G>C
ENST00000680997.1:n.480G>C
ENST00000681088.1:c.795G>C
ENST00000681608.1:n.81G>C
ENST00000681625.1:c.*465G>C	ENSP00000505555.1:n.*465G>C
ENST00000270301.11:c.3133G>C	ENSP00000270301.6:p.Val1045Leu
ENST00000401500.6:c.3133G>C	ENSP00000384792.1:p.Val1045Leu
ENST00000587391.5:c.*2408G>C	ENSP00000465525.1:n.*2408G>C
NM_001083961.1:c.3133G>C	NP_001077430.1:p.Val1045Leu
NM_173636.4:c.3133G>C	NP_775907.4:p.Val1045Leu
XM_005258809.2:c.3022G>C	XP_005258866.1:p.Val1008Leu
XM_011526837.1:c.3118G>C	XP_011525139.1:p.Val1040Leu
XM_011526838.1:c.2972-673G>C	XP_011525140.1:n.2972-673G>C
XM_011526839.1:c.2782G>C	XP_011525141.1:p.Val928Leu
XM_011526840.1:c.2125G>C	XP_011525142.1:p.Val709Leu
XM_011526841.1:c.1711G>C	XP_011525143.1:p.Val571Leu
XM_011526842.1:c.1564G>C	XP_011525144.1:p.Val522Leu
XM_011526843.1:c.880G>C	XP_011525145.1:p.Val294Leu
XM_011526844.1:c.880G>C	XP_011525146.1:p.Val294Leu
XM_011526840.2:c.2125G>C	XP_011525142.1:p.Val709Leu
XM_011526841.2:c.1711G>C	XP_011525143.1:p.Val571Leu
XM_011526844.2:c.880G>C	XP_011525146.1:p.Val294Leu
XM_017026665.1:c.3133G>C	XP_016882154.1:p.Val1045Leu
NM_001083961.2:c.3133G>C MANE Select	NP_001077430.1:p.Val1045Leu
NM_173636.5:c.3133G>C	NP_775907.4:p.Val1045Leu