Canonical Allele Identifier: CA9396368

Gene: WDR62

Linked Data

• ClinVar Variation Id: 2386313
• ClinVar RCV Id: RCV002690020
• dbSNP Id: rs777302270
• ExAC: 19:36594445 G / C
• gnomAD v2: 19-36594445-G-C
• gnomAD v3: 19-36103543-G-C
• gnomAD v4: 19-36103543-G-C
• MyVariant Identifiers: chr19:g.36594445G>C (hg19) ; chr19:g.36103543G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36103543G>C , CM000681.2:g.36103543G>C	GRCh38
NC_000019.9:g.36594445G>C , CM000681.1:g.36594445G>C	GRCh37
NC_000019.8:g.41286285G>C	NCBI36
NG_028101.1:g.53663G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000270301.12:c.3700G>C	ENSP00000270301.6:p.Gly1234Arg
ENST00000401500.7:c.3715G>C MANE Select	ENSP00000384792.1:p.Gly1239Arg
ENST00000587391.6:c.*3575G>C	ENSP00000465525.1:n.*3575G>C
ENST00000679357.1:c.1795G>C
ENST00000679598.1:c.480G>C
ENST00000679682.1:c.3700G>C	ENSP00000506226.1:p.Gly1234Arg
ENST00000679714.1:c.3709G>C	ENSP00000506627.1:p.Gly1237Arg
ENST00000679757.1:c.3364G>C	ENSP00000505158.1:p.Gly1122Arg
ENST00000679858.1:c.*3097G>C	ENSP00000505655.1:n.*3097G>C
ENST00000680211.1:c.316G>C	ENSP00000506102.1:p.Gly106Arg
ENST00000680280.1:n.1218G>C
ENST00000680349.1:n.2364G>C
ENST00000680403.1:c.3700G>C	ENSP00000505677.1:p.Gly1234Arg
ENST00000680564.1:c.3466G>C	ENSP00000505582.1:p.Gly1156Arg
ENST00000680590.1:c.*2095G>C	ENSP00000505350.1:n.*2095G>C
ENST00000680597.1:c.448G>C
ENST00000680739.1:c.730G>C
ENST00000680773.1:n.2216G>C
ENST00000680806.1:c.*3018G>C	ENSP00000506418.1:n.*3018G>C
ENST00000680997.1:n.1647G>C
ENST00000681608.1:n.1560G>C
ENST00000681625.1:c.*1047G>C	ENSP00000505555.1:n.*1047G>C
ENST00000681648.1:n.1230G>C
ENST00000270301.11:c.3700G>C	ENSP00000270301.6:p.Gly1234Arg
ENST00000401500.6:c.3715G>C	ENSP00000384792.1:p.Gly1239Arg
ENST00000587391.5:c.*3575G>C	ENSP00000465525.1:n.*3575G>C
NM_001083961.1:c.3715G>C	NP_001077430.1:p.Gly1239Arg
NM_173636.4:c.3700G>C	NP_775907.4:p.Gly1234Arg
XM_005258809.2:c.3604G>C	XP_005258866.1:p.Gly1202Arg
XM_011526837.1:c.3700G>C	XP_011525139.1:p.Gly1234Arg
XM_011526838.1:c.3466G>C	XP_011525140.1:p.Gly1156Arg
XM_011526839.1:c.3364G>C	XP_011525141.1:p.Gly1122Arg
XM_011526840.1:c.2707G>C	XP_011525142.1:p.Gly903Arg
XM_011526841.1:c.2293G>C	XP_011525143.1:p.Gly765Arg
XM_011526842.1:c.2146G>C	XP_011525144.1:p.Gly716Arg
XM_011526843.1:c.1462G>C	XP_011525145.1:p.Gly488Arg
XM_011526844.1:c.1462G>C	XP_011525146.1:p.Gly488Arg
XM_011526840.2:c.2707G>C	XP_011525142.1:p.Gly903Arg
XM_011526841.2:c.2293G>C	XP_011525143.1:p.Gly765Arg
XM_011526844.2:c.1462G>C	XP_011525146.1:p.Gly488Arg
XM_017026665.1:c.3715G>C	XP_016882154.1:p.Gly1239Arg
NM_001083961.2:c.3715G>C MANE Select	NP_001077430.1:p.Gly1239Arg
NM_173636.5:c.3700G>C	NP_775907.4:p.Gly1234Arg