Canonical Allele Identifier: CA405449908

Gene: WDR62

Linked Data

• ClinVar Variation Id: 1385327
• ClinVar RCV Id: RCV001902859
• dbSNP Id: rs970848861
• MyVariant Identifiers: chr19:g.36592922C>T (hg19) ; chr19:g.36102020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36102020C>T , CM000681.2:g.36102020C>T	GRCh38
NC_000019.9:g.36592922C>T , CM000681.1:g.36592922C>T	GRCh37
NC_000019.8:g.41284762C>T	NCBI36
NG_028101.1:g.52140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3089C>T	ENSP00000270301.6:p.Ala1030Val
ENST00000401500.7:c.3089C>T MANE Select	ENSP00000384792.1:p.Ala1030Val
ENST00000587391.6:c.*2364C>T	ENSP00000465525.1:n.*2364C>T
ENST00000679357.1:c.879C>T
ENST00000679422.1:c.768C>T
ENST00000679682.1:c.3074C>T	ENSP00000506226.1:p.Ala1025Val
ENST00000679714.1:c.3083C>T	ENSP00000506627.1:p.Ala1028Val
ENST00000679757.1:c.2738C>T	ENSP00000505158.1:p.Ala913Val
ENST00000679858.1:c.*2471C>T	ENSP00000505655.1:n.*2471C>T
ENST00000680211.1:c.-311C>T	ENSP00000506102.1:n.-311C>T
ENST00000680349.1:n.1072C>T
ENST00000680403.1:c.3089C>T	ENSP00000505677.1:p.Ala1030Val
ENST00000680564.1:c.2971+703C>T	ENSP00000505582.1:n.2971+703C>T
ENST00000680590.1:c.*1484C>T	ENSP00000505350.1:n.*1484C>T
ENST00000680739.1:c.7C>T
ENST00000680773.1:n.1005C>T
ENST00000680806.1:c.*1807C>T	ENSP00000506418.1:n.*1807C>T
ENST00000680997.1:n.436C>T
ENST00000681088.1:c.751C>T
ENST00000681608.1:n.37C>T
ENST00000681625.1:c.*421C>T	ENSP00000505555.1:n.*421C>T
ENST00000270301.11:c.3089C>T	ENSP00000270301.6:p.Ala1030Val
ENST00000401500.6:c.3089C>T	ENSP00000384792.1:p.Ala1030Val
ENST00000587391.5:c.*2364C>T	ENSP00000465525.1:n.*2364C>T
NM_001083961.1:c.3089C>T	NP_001077430.1:p.Ala1030Val
NM_173636.4:c.3089C>T	NP_775907.4:p.Ala1030Val
XM_005258809.2:c.2978C>T	XP_005258866.1:p.Ala993Val
XM_011526837.1:c.3074C>T	XP_011525139.1:p.Ala1025Val
XM_011526838.1:c.2971+703C>T	XP_011525140.1:n.2971+703C>T
XM_011526839.1:c.2738C>T	XP_011525141.1:p.Ala913Val
XM_011526840.1:c.2081C>T	XP_011525142.1:p.Ala694Val
XM_011526841.1:c.1667C>T	XP_011525143.1:p.Ala556Val
XM_011526842.1:c.1520C>T	XP_011525144.1:p.Ala507Val
XM_011526843.1:c.836C>T	XP_011525145.1:p.Ala279Val
XM_011526844.1:c.836C>T	XP_011525146.1:p.Ala279Val
XM_011526840.2:c.2081C>T	XP_011525142.1:p.Ala694Val
XM_011526841.2:c.1667C>T	XP_011525143.1:p.Ala556Val
XM_011526844.2:c.836C>T	XP_011525146.1:p.Ala279Val
XM_017026665.1:c.3089C>T	XP_016882154.1:p.Ala1030Val
NM_001083961.2:c.3089C>T MANE Select	NP_001077430.1:p.Ala1030Val
NM_173636.5:c.3089C>T	NP_775907.4:p.Ala1030Val