Canonical Allele Identifier: CA9396132

Gene: WDR62

Linked Data

• ClinVar Variation Id: 2979242
• ClinVar RCV Id: RCV003831872
• dbSNP Id: rs755917693
• ExAC: 19:36592691 G / C
• gnomAD v2: 19-36592691-G-C
• gnomAD v3: 19-36101789-G-C
• gnomAD v4: 19-36101789-G-C
• MyVariant Identifiers: chr19:g.36592691G>C (hg19) ; chr19:g.36101789G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36101789G>C , CM000681.2:g.36101789G>C	GRCh38
NC_000019.9:g.36592691G>C , CM000681.1:g.36592691G>C	GRCh37
NC_000019.8:g.41284531G>C	NCBI36
NG_028101.1:g.51909G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3082+15G>C	ENSP00000270301.6:n.3082+15G>C
ENST00000401500.7:c.3082+15G>C MANE Select	ENSP00000384792.1:n.3082+15G>C
ENST00000587391.6:c.*2133G>C	ENSP00000465525.1:n.*2133G>C
ENST00000679357.1:c.872+15G>C
ENST00000679422.1:c.762-225G>C
ENST00000679682.1:c.3067+15G>C	ENSP00000506226.1:n.3067+15G>C
ENST00000679714.1:c.3076+15G>C	ENSP00000506627.1:n.3076+15G>C
ENST00000679757.1:c.2731+15G>C	ENSP00000505158.1:n.2731+15G>C
ENST00000679858.1:c.*2240G>C	ENSP00000505655.1:n.*2240G>C
ENST00000680211.1:c.-318+15G>C	ENSP00000506102.1:n.-318+15G>C
ENST00000680349.1:n.1065+15G>C
ENST00000680403.1:c.3082+15G>C	ENSP00000505677.1:n.3082+15G>C
ENST00000680564.1:c.2971+472G>C	ENSP00000505582.1:n.2971+472G>C
ENST00000680590.1:c.*1477+15G>C	ENSP00000505350.1:n.*1477+15G>C
ENST00000680773.1:n.774G>C
ENST00000680806.1:c.*1801-225G>C	ENSP00000506418.1:n.*1801-225G>C
ENST00000680997.1:n.429+15G>C
ENST00000681088.1:c.744+15G>C
ENST00000681608.1:n.30+15G>C
ENST00000681625.1:c.*414+15G>C	ENSP00000505555.1:n.*414+15G>C
ENST00000270301.11:c.3082+15G>C	ENSP00000270301.6:n.3082+15G>C
ENST00000401500.6:c.3082+15G>C	ENSP00000384792.1:n.3082+15G>C
ENST00000587391.5:c.*2133G>C	ENSP00000465525.1:n.*2133G>C
NM_001083961.1:c.3082+15G>C	NP_001077430.1:n.3082+15G>C
NM_173636.4:c.3082+15G>C	NP_775907.4:n.3082+15G>C
XM_005258809.2:c.2972-225G>C	XP_005258866.1:n.2972-225G>C
XM_011526837.1:c.3067+15G>C	XP_011525139.1:n.3067+15G>C
XM_011526838.1:c.2971+472G>C	XP_011525140.1:n.2971+472G>C
XM_011526839.1:c.2731+15G>C	XP_011525141.1:n.2731+15G>C
XM_011526840.1:c.2074+15G>C	XP_011525142.1:n.2074+15G>C
XM_011526841.1:c.1660+15G>C	XP_011525143.1:n.1660+15G>C
XM_011526842.1:c.1513+15G>C	XP_011525144.1:n.1513+15G>C
XM_011526843.1:c.829+15G>C	XP_011525145.1:n.829+15G>C
XM_011526844.1:c.829+15G>C	XP_011525146.1:n.829+15G>C
XM_011526840.2:c.2074+15G>C	XP_011525142.1:n.2074+15G>C
XM_011526841.2:c.1660+15G>C	XP_011525143.1:n.1660+15G>C
XM_011526844.2:c.829+15G>C	XP_011525146.1:n.829+15G>C
XM_017026665.1:c.3082+15G>C	XP_016882154.1:n.3082+15G>C
NM_001083961.2:c.3082+15G>C MANE Select	NP_001077430.1:n.3082+15G>C
NM_173636.5:c.3082+15G>C	NP_775907.4:n.3082+15G>C