Canonical Allele Identifier: CA9396158

Gene: WDR62

Linked Data

• ClinVar Variation Id: 2683494
• ClinVar RCV Id: RCV003480314 ; RCV004364850
• dbSNP Id: rs771206214
• ExAC: 19:36592921 G / A
• gnomAD v2: 19-36592921-G-A
• gnomAD v3: 19-36102019-G-A
• gnomAD v4: 19-36102019-G-A
• MyVariant Identifiers: chr19:g.36592921G>A (hg19) ; chr19:g.36102019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36102019G>A , CM000681.2:g.36102019G>A	GRCh38
NC_000019.9:g.36592921G>A , CM000681.1:g.36592921G>A	GRCh37
NC_000019.8:g.41284761G>A	NCBI36
NG_028101.1:g.52139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3088G>A	ENSP00000270301.6:p.Ala1030Thr
ENST00000401500.7:c.3088G>A MANE Select	ENSP00000384792.1:p.Ala1030Thr
ENST00000587391.6:c.*2363G>A	ENSP00000465525.1:n.*2363G>A
ENST00000679357.1:c.878G>A
ENST00000679422.1:c.767G>A
ENST00000679682.1:c.3073G>A	ENSP00000506226.1:p.Ala1025Thr
ENST00000679714.1:c.3082G>A	ENSP00000506627.1:p.Ala1028Thr
ENST00000679757.1:c.2737G>A	ENSP00000505158.1:p.Ala913Thr
ENST00000679858.1:c.*2470G>A	ENSP00000505655.1:n.*2470G>A
ENST00000680211.1:c.-312G>A	ENSP00000506102.1:n.-312G>A
ENST00000680349.1:n.1071G>A
ENST00000680403.1:c.3088G>A	ENSP00000505677.1:p.Ala1030Thr
ENST00000680564.1:c.2971+702G>A	ENSP00000505582.1:n.2971+702G>A
ENST00000680590.1:c.*1483G>A	ENSP00000505350.1:n.*1483G>A
ENST00000680739.1:c.6G>A
ENST00000680773.1:n.1004G>A
ENST00000680806.1:c.*1806G>A	ENSP00000506418.1:n.*1806G>A
ENST00000680997.1:n.435G>A
ENST00000681088.1:c.750G>A
ENST00000681608.1:n.36G>A
ENST00000681625.1:c.*420G>A	ENSP00000505555.1:n.*420G>A
ENST00000270301.11:c.3088G>A	ENSP00000270301.6:p.Ala1030Thr
ENST00000401500.6:c.3088G>A	ENSP00000384792.1:p.Ala1030Thr
ENST00000587391.5:c.*2363G>A	ENSP00000465525.1:n.*2363G>A
NM_001083961.1:c.3088G>A	NP_001077430.1:p.Ala1030Thr
NM_173636.4:c.3088G>A	NP_775907.4:p.Ala1030Thr
XM_005258809.2:c.2977G>A	XP_005258866.1:p.Ala993Thr
XM_011526837.1:c.3073G>A	XP_011525139.1:p.Ala1025Thr
XM_011526838.1:c.2971+702G>A	XP_011525140.1:n.2971+702G>A
XM_011526839.1:c.2737G>A	XP_011525141.1:p.Ala913Thr
XM_011526840.1:c.2080G>A	XP_011525142.1:p.Ala694Thr
XM_011526841.1:c.1666G>A	XP_011525143.1:p.Ala556Thr
XM_011526842.1:c.1519G>A	XP_011525144.1:p.Ala507Thr
XM_011526843.1:c.835G>A	XP_011525145.1:p.Ala279Thr
XM_011526844.1:c.835G>A	XP_011525146.1:p.Ala279Thr
XM_011526840.2:c.2080G>A	XP_011525142.1:p.Ala694Thr
XM_011526841.2:c.1666G>A	XP_011525143.1:p.Ala556Thr
XM_011526844.2:c.835G>A	XP_011525146.1:p.Ala279Thr
XM_017026665.1:c.3088G>A	XP_016882154.1:p.Ala1030Thr
NM_001083961.2:c.3088G>A MANE Select	NP_001077430.1:p.Ala1030Thr
NM_173636.5:c.3088G>A	NP_775907.4:p.Ala1030Thr