Canonical Allele Identifier: CA405450918

Gene: WDR62

Linked Data

• dbSNP Id: rs1973394652
• gnomAD v4: 19-36102146-G-C
• MyVariant Identifiers: chr19:g.36593048G>C (hg19) ; chr19:g.36102146G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36102146G>C , CM000681.2:g.36102146G>C	GRCh38
NC_000019.9:g.36593048G>C , CM000681.1:g.36593048G>C	GRCh37
NC_000019.8:g.41284888G>C	NCBI36
NG_028101.1:g.52266G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3215G>C	ENSP00000270301.6:p.Cys1072Ser
ENST00000401500.7:c.3215G>C MANE Select	ENSP00000384792.1:p.Cys1072Ser
ENST00000587391.6:c.*2490G>C	ENSP00000465525.1:n.*2490G>C
ENST00000679357.1:c.1005G>C
ENST00000679422.1:c.894G>C
ENST00000679682.1:c.3200G>C	ENSP00000506226.1:p.Cys1067Ser
ENST00000679714.1:c.3209G>C	ENSP00000506627.1:p.Cys1070Ser
ENST00000679757.1:c.2864G>C	ENSP00000505158.1:p.Cys955Ser
ENST00000679858.1:c.*2597G>C	ENSP00000505655.1:n.*2597G>C
ENST00000680211.1:c.-185G>C	ENSP00000506102.1:n.-185G>C
ENST00000680349.1:n.1198G>C
ENST00000680403.1:c.3215G>C	ENSP00000505677.1:p.Cys1072Ser
ENST00000680564.1:c.2972-591G>C	ENSP00000505582.1:n.2972-591G>C
ENST00000680590.1:c.*1610G>C	ENSP00000505350.1:n.*1610G>C
ENST00000680739.1:c.133G>C
ENST00000680773.1:n.1131G>C
ENST00000680806.1:c.*1933G>C	ENSP00000506418.1:n.*1933G>C
ENST00000680997.1:n.562G>C
ENST00000681088.1:c.877G>C
ENST00000681608.1:n.163G>C
ENST00000681625.1:c.*547G>C	ENSP00000505555.1:n.*547G>C
ENST00000270301.11:c.3215G>C	ENSP00000270301.6:p.Cys1072Ser
ENST00000401500.6:c.3215G>C	ENSP00000384792.1:p.Cys1072Ser
ENST00000587391.5:c.*2490G>C	ENSP00000465525.1:n.*2490G>C
NM_001083961.1:c.3215G>C	NP_001077430.1:p.Cys1072Ser
NM_173636.4:c.3215G>C	NP_775907.4:p.Cys1072Ser
XM_005258809.2:c.3104G>C	XP_005258866.1:p.Cys1035Ser
XM_011526837.1:c.3200G>C	XP_011525139.1:p.Cys1067Ser
XM_011526838.1:c.2972-591G>C	XP_011525140.1:n.2972-591G>C
XM_011526839.1:c.2864G>C	XP_011525141.1:p.Cys955Ser
XM_011526840.1:c.2207G>C	XP_011525142.1:p.Cys736Ser
XM_011526841.1:c.1793G>C	XP_011525143.1:p.Cys598Ser
XM_011526842.1:c.1646G>C	XP_011525144.1:p.Cys549Ser
XM_011526843.1:c.962G>C	XP_011525145.1:p.Cys321Ser
XM_011526844.1:c.962G>C	XP_011525146.1:p.Cys321Ser
XM_011526840.2:c.2207G>C	XP_011525142.1:p.Cys736Ser
XM_011526841.2:c.1793G>C	XP_011525143.1:p.Cys598Ser
XM_011526844.2:c.962G>C	XP_011525146.1:p.Cys321Ser
XM_017026665.1:c.3215G>C	XP_016882154.1:p.Cys1072Ser
NM_001083961.2:c.3215G>C MANE Select	NP_001077430.1:p.Cys1072Ser
NM_173636.5:c.3215G>C	NP_775907.4:p.Cys1072Ser