Canonical Allele Identifier: CA9396173

Gene: WDR62

Linked Data

• dbSNP Id: rs777428608
• ExAC: 19:36592994 C / T
• gnomAD v4: 19-36102092-C-T
• MyVariant Identifiers: chr19:g.36592994C>T (hg19) ; chr19:g.36102092C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36102092C>T , CM000681.2:g.36102092C>T	GRCh38
NC_000019.9:g.36592994C>T , CM000681.1:g.36592994C>T	GRCh37
NC_000019.8:g.41284834C>T	NCBI36
NG_028101.1:g.52212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3161C>T	ENSP00000270301.6:p.Pro1054Leu
ENST00000401500.7:c.3161C>T MANE Select	ENSP00000384792.1:p.Pro1054Leu
ENST00000587391.6:c.*2436C>T	ENSP00000465525.1:n.*2436C>T
ENST00000679357.1:c.951C>T
ENST00000679422.1:c.840C>T
ENST00000679682.1:c.3146C>T	ENSP00000506226.1:p.Pro1049Leu
ENST00000679714.1:c.3155C>T	ENSP00000506627.1:p.Pro1052Leu
ENST00000679757.1:c.2810C>T	ENSP00000505158.1:p.Pro937Leu
ENST00000679858.1:c.*2543C>T	ENSP00000505655.1:n.*2543C>T
ENST00000680211.1:c.-239C>T	ENSP00000506102.1:n.-239C>T
ENST00000680349.1:n.1144C>T
ENST00000680403.1:c.3161C>T	ENSP00000505677.1:p.Pro1054Leu
ENST00000680564.1:c.2972-645C>T	ENSP00000505582.1:n.2972-645C>T
ENST00000680590.1:c.*1556C>T	ENSP00000505350.1:n.*1556C>T
ENST00000680739.1:c.79C>T
ENST00000680773.1:n.1077C>T
ENST00000680806.1:c.*1879C>T	ENSP00000506418.1:n.*1879C>T
ENST00000680997.1:n.508C>T
ENST00000681088.1:c.823C>T
ENST00000681608.1:n.109C>T
ENST00000681625.1:c.*493C>T	ENSP00000505555.1:n.*493C>T
ENST00000270301.11:c.3161C>T	ENSP00000270301.6:p.Pro1054Leu
ENST00000401500.6:c.3161C>T	ENSP00000384792.1:p.Pro1054Leu
ENST00000587391.5:c.*2436C>T	ENSP00000465525.1:n.*2436C>T
NM_001083961.1:c.3161C>T	NP_001077430.1:p.Pro1054Leu
NM_173636.4:c.3161C>T	NP_775907.4:p.Pro1054Leu
XM_005258809.2:c.3050C>T	XP_005258866.1:p.Pro1017Leu
XM_011526837.1:c.3146C>T	XP_011525139.1:p.Pro1049Leu
XM_011526838.1:c.2972-645C>T	XP_011525140.1:n.2972-645C>T
XM_011526839.1:c.2810C>T	XP_011525141.1:p.Pro937Leu
XM_011526840.1:c.2153C>T	XP_011525142.1:p.Pro718Leu
XM_011526841.1:c.1739C>T	XP_011525143.1:p.Pro580Leu
XM_011526842.1:c.1592C>T	XP_011525144.1:p.Pro531Leu
XM_011526843.1:c.908C>T	XP_011525145.1:p.Pro303Leu
XM_011526844.1:c.908C>T	XP_011525146.1:p.Pro303Leu
XM_011526840.2:c.2153C>T	XP_011525142.1:p.Pro718Leu
XM_011526841.2:c.1739C>T	XP_011525143.1:p.Pro580Leu
XM_011526844.2:c.908C>T	XP_011525146.1:p.Pro303Leu
XM_017026665.1:c.3161C>T	XP_016882154.1:p.Pro1054Leu
NM_001083961.2:c.3161C>T MANE Select	NP_001077430.1:p.Pro1054Leu
NM_173636.5:c.3161C>T	NP_775907.4:p.Pro1054Leu