Canonical Allele Identifier: CA405450083

Gene: WDR62

Linked Data

• gnomAD v4: 19-36102046-C-G
• MyVariant Identifiers: chr19:g.36592948C>G (hg19) ; chr19:g.36102046C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36102046C>G , CM000681.2:g.36102046C>G	GRCh38
NC_000019.9:g.36592948C>G , CM000681.1:g.36592948C>G	GRCh37
NC_000019.8:g.41284788C>G	NCBI36
NG_028101.1:g.52166C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3115C>G	ENSP00000270301.6:p.Leu1039Val
ENST00000401500.7:c.3115C>G MANE Select	ENSP00000384792.1:p.Leu1039Val
ENST00000587391.6:c.*2390C>G	ENSP00000465525.1:n.*2390C>G
ENST00000679357.1:c.905C>G
ENST00000679422.1:c.794C>G
ENST00000679682.1:c.3100C>G	ENSP00000506226.1:p.Leu1034Val
ENST00000679714.1:c.3109C>G	ENSP00000506627.1:p.Leu1037Val
ENST00000679757.1:c.2764C>G	ENSP00000505158.1:p.Leu922Val
ENST00000679858.1:c.*2497C>G	ENSP00000505655.1:n.*2497C>G
ENST00000680211.1:c.-285C>G	ENSP00000506102.1:n.-285C>G
ENST00000680349.1:n.1098C>G
ENST00000680403.1:c.3115C>G	ENSP00000505677.1:p.Leu1039Val
ENST00000680564.1:c.2972-691C>G	ENSP00000505582.1:n.2972-691C>G
ENST00000680590.1:c.*1510C>G	ENSP00000505350.1:n.*1510C>G
ENST00000680739.1:c.33C>G
ENST00000680773.1:n.1031C>G
ENST00000680806.1:c.*1833C>G	ENSP00000506418.1:n.*1833C>G
ENST00000680997.1:n.462C>G
ENST00000681088.1:c.777C>G
ENST00000681608.1:n.63C>G
ENST00000681625.1:c.*447C>G	ENSP00000505555.1:n.*447C>G
ENST00000270301.11:c.3115C>G	ENSP00000270301.6:p.Leu1039Val
ENST00000401500.6:c.3115C>G	ENSP00000384792.1:p.Leu1039Val
ENST00000587391.5:c.*2390C>G	ENSP00000465525.1:n.*2390C>G
NM_001083961.1:c.3115C>G	NP_001077430.1:p.Leu1039Val
NM_173636.4:c.3115C>G	NP_775907.4:p.Leu1039Val
XM_005258809.2:c.3004C>G	XP_005258866.1:p.Leu1002Val
XM_011526837.1:c.3100C>G	XP_011525139.1:p.Leu1034Val
XM_011526838.1:c.2972-691C>G	XP_011525140.1:n.2972-691C>G
XM_011526839.1:c.2764C>G	XP_011525141.1:p.Leu922Val
XM_011526840.1:c.2107C>G	XP_011525142.1:p.Leu703Val
XM_011526841.1:c.1693C>G	XP_011525143.1:p.Leu565Val
XM_011526842.1:c.1546C>G	XP_011525144.1:p.Leu516Val
XM_011526843.1:c.862C>G	XP_011525145.1:p.Leu288Val
XM_011526844.1:c.862C>G	XP_011525146.1:p.Leu288Val
XM_011526840.2:c.2107C>G	XP_011525142.1:p.Leu703Val
XM_011526841.2:c.1693C>G	XP_011525143.1:p.Leu565Val
XM_011526844.2:c.862C>G	XP_011525146.1:p.Leu288Val
XM_017026665.1:c.3115C>G	XP_016882154.1:p.Leu1039Val
NM_001083961.2:c.3115C>G MANE Select	NP_001077430.1:p.Leu1039Val
NM_173636.5:c.3115C>G	NP_775907.4:p.Leu1039Val