Canonical Allele Identifier: CA405450280

Gene: WDR62

Linked Data

• dbSNP Id: rs1404965427
• gnomAD v2: 19-36592976-G-C
• gnomAD v4: 19-36102074-G-C
• MyVariant Identifiers: chr19:g.36592976G>C (hg19) ; chr19:g.36102074G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36102074G>C , CM000681.2:g.36102074G>C	GRCh38
NC_000019.9:g.36592976G>C , CM000681.1:g.36592976G>C	GRCh37
NC_000019.8:g.41284816G>C	NCBI36
NG_028101.1:g.52194G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3143G>C	ENSP00000270301.6:p.Ser1048Thr
ENST00000401500.7:c.3143G>C MANE Select	ENSP00000384792.1:p.Ser1048Thr
ENST00000587391.6:c.*2418G>C	ENSP00000465525.1:n.*2418G>C
ENST00000679357.1:c.933G>C
ENST00000679422.1:c.822G>C
ENST00000679682.1:c.3128G>C	ENSP00000506226.1:p.Ser1043Thr
ENST00000679714.1:c.3137G>C	ENSP00000506627.1:p.Ser1046Thr
ENST00000679757.1:c.2792G>C	ENSP00000505158.1:p.Ser931Thr
ENST00000679858.1:c.*2525G>C	ENSP00000505655.1:n.*2525G>C
ENST00000680211.1:c.-257G>C	ENSP00000506102.1:n.-257G>C
ENST00000680349.1:n.1126G>C
ENST00000680403.1:c.3143G>C	ENSP00000505677.1:p.Ser1048Thr
ENST00000680564.1:c.2972-663G>C	ENSP00000505582.1:n.2972-663G>C
ENST00000680590.1:c.*1538G>C	ENSP00000505350.1:n.*1538G>C
ENST00000680739.1:c.61G>C
ENST00000680773.1:n.1059G>C
ENST00000680806.1:c.*1861G>C	ENSP00000506418.1:n.*1861G>C
ENST00000680997.1:n.490G>C
ENST00000681088.1:c.805G>C
ENST00000681608.1:n.91G>C
ENST00000681625.1:c.*475G>C	ENSP00000505555.1:n.*475G>C
ENST00000270301.11:c.3143G>C	ENSP00000270301.6:p.Ser1048Thr
ENST00000401500.6:c.3143G>C	ENSP00000384792.1:p.Ser1048Thr
ENST00000587391.5:c.*2418G>C	ENSP00000465525.1:n.*2418G>C
NM_001083961.1:c.3143G>C	NP_001077430.1:p.Ser1048Thr
NM_173636.4:c.3143G>C	NP_775907.4:p.Ser1048Thr
XM_005258809.2:c.3032G>C	XP_005258866.1:p.Ser1011Thr
XM_011526837.1:c.3128G>C	XP_011525139.1:p.Ser1043Thr
XM_011526838.1:c.2972-663G>C	XP_011525140.1:n.2972-663G>C
XM_011526839.1:c.2792G>C	XP_011525141.1:p.Ser931Thr
XM_011526840.1:c.2135G>C	XP_011525142.1:p.Ser712Thr
XM_011526841.1:c.1721G>C	XP_011525143.1:p.Ser574Thr
XM_011526842.1:c.1574G>C	XP_011525144.1:p.Ser525Thr
XM_011526843.1:c.890G>C	XP_011525145.1:p.Ser297Thr
XM_011526844.1:c.890G>C	XP_011525146.1:p.Ser297Thr
XM_011526840.2:c.2135G>C	XP_011525142.1:p.Ser712Thr
XM_011526841.2:c.1721G>C	XP_011525143.1:p.Ser574Thr
XM_011526844.2:c.890G>C	XP_011525146.1:p.Ser297Thr
XM_017026665.1:c.3143G>C	XP_016882154.1:p.Ser1048Thr
NM_001083961.2:c.3143G>C MANE Select	NP_001077430.1:p.Ser1048Thr
NM_173636.5:c.3143G>C	NP_775907.4:p.Ser1048Thr