Canonical Allele Identifier: CA405449372

Gene: WDR62

Linked Data

• dbSNP Id: rs1299603625
• gnomAD v2: 19-36592628-C-T
• MyVariant Identifiers: chr19:g.36592628C>T (hg19) ; chr19:g.36101726C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36101726C>T , CM000681.2:g.36101726C>T	GRCh38
NC_000019.9:g.36592628C>T , CM000681.1:g.36592628C>T	GRCh37
NC_000019.8:g.41284468C>T	NCBI36
NG_028101.1:g.51846C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000270301.12:c.3034C>T	ENSP00000270301.6:p.Pro1012Ser
ENST00000401500.7:c.3034C>T MANE Select	ENSP00000384792.1:p.Pro1012Ser
ENST00000587391.6:c.*2070C>T	ENSP00000465525.1:n.*2070C>T
ENST00000679357.1:c.824C>T
ENST00000679422.1:c.762-288C>T
ENST00000679682.1:c.3019C>T	ENSP00000506226.1:p.Pro1007Ser
ENST00000679714.1:c.3028C>T	ENSP00000506627.1:p.Pro1010Ser
ENST00000679757.1:c.2683C>T	ENSP00000505158.1:p.Pro895Ser
ENST00000679858.1:c.*2177C>T	ENSP00000505655.1:n.*2177C>T
ENST00000680211.1:c.-366C>T	ENSP00000506102.1:n.-366C>T
ENST00000680349.1:n.1017C>T
ENST00000680403.1:c.3034C>T	ENSP00000505677.1:p.Pro1012Ser
ENST00000680564.1:c.2971+409C>T	ENSP00000505582.1:n.2971+409C>T
ENST00000680590.1:c.*1429C>T	ENSP00000505350.1:n.*1429C>T
ENST00000680773.1:n.711C>T
ENST00000680806.1:c.*1801-288C>T	ENSP00000506418.1:n.*1801-288C>T
ENST00000680997.1:n.381C>T
ENST00000681088.1:c.696C>T
ENST00000681625.1:c.*366C>T	ENSP00000505555.1:n.*366C>T
ENST00000270301.11:c.3034C>T	ENSP00000270301.6:p.Pro1012Ser
ENST00000401500.6:c.3034C>T	ENSP00000384792.1:p.Pro1012Ser
ENST00000587391.5:c.*2070C>T	ENSP00000465525.1:n.*2070C>T
NM_001083961.1:c.3034C>T	NP_001077430.1:p.Pro1012Ser
NM_173636.4:c.3034C>T	NP_775907.4:p.Pro1012Ser
XM_005258809.2:c.2972-288C>T	XP_005258866.1:n.2972-288C>T
XM_011526837.1:c.3019C>T	XP_011525139.1:p.Pro1007Ser
XM_011526838.1:c.2971+409C>T	XP_011525140.1:n.2971+409C>T
XM_011526839.1:c.2683C>T	XP_011525141.1:p.Pro895Ser
XM_011526840.1:c.2026C>T	XP_011525142.1:p.Pro676Ser
XM_011526841.1:c.1612C>T	XP_011525143.1:p.Pro538Ser
XM_011526842.1:c.1465C>T	XP_011525144.1:p.Pro489Ser
XM_011526843.1:c.781C>T	XP_011525145.1:p.Pro261Ser
XM_011526844.1:c.781C>T	XP_011525146.1:p.Pro261Ser
XM_011526840.2:c.2026C>T	XP_011525142.1:p.Pro676Ser
XM_011526841.2:c.1612C>T	XP_011525143.1:p.Pro538Ser
XM_011526844.2:c.781C>T	XP_011525146.1:p.Pro261Ser
XM_017026665.1:c.3034C>T	XP_016882154.1:p.Pro1012Ser
NM_001083961.2:c.3034C>T MANE Select	NP_001077430.1:p.Pro1012Ser
NM_173636.5:c.3034C>T	NP_775907.4:p.Pro1012Ser