Canonical Allele Identifier: CA405450053

Gene: WDR62

Linked Data

• gnomAD v4: 19-36102041-T-C
• MyVariant Identifiers: chr19:g.36592943T>C (hg19) ; chr19:g.36102041T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36102041T>C , CM000681.2:g.36102041T>C	GRCh38
NC_000019.9:g.36592943T>C , CM000681.1:g.36592943T>C	GRCh37
NC_000019.8:g.41284783T>C	NCBI36
NG_028101.1:g.52161T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3110T>C	ENSP00000270301.6:p.Leu1037Pro
ENST00000401500.7:c.3110T>C MANE Select	ENSP00000384792.1:p.Leu1037Pro
ENST00000587391.6:c.*2385T>C	ENSP00000465525.1:n.*2385T>C
ENST00000679357.1:c.900T>C
ENST00000679422.1:c.789T>C
ENST00000679682.1:c.3095T>C	ENSP00000506226.1:p.Leu1032Pro
ENST00000679714.1:c.3104T>C	ENSP00000506627.1:p.Leu1035Pro
ENST00000679757.1:c.2759T>C	ENSP00000505158.1:p.Leu920Pro
ENST00000679858.1:c.*2492T>C	ENSP00000505655.1:n.*2492T>C
ENST00000680211.1:c.-290T>C	ENSP00000506102.1:n.-290T>C
ENST00000680349.1:n.1093T>C
ENST00000680403.1:c.3110T>C	ENSP00000505677.1:p.Leu1037Pro
ENST00000680564.1:c.2972-696T>C	ENSP00000505582.1:n.2972-696T>C
ENST00000680590.1:c.*1505T>C	ENSP00000505350.1:n.*1505T>C
ENST00000680739.1:c.28T>C
ENST00000680773.1:n.1026T>C
ENST00000680806.1:c.*1828T>C	ENSP00000506418.1:n.*1828T>C
ENST00000680997.1:n.457T>C
ENST00000681088.1:c.772T>C
ENST00000681608.1:n.58T>C
ENST00000681625.1:c.*442T>C	ENSP00000505555.1:n.*442T>C
ENST00000270301.11:c.3110T>C	ENSP00000270301.6:p.Leu1037Pro
ENST00000401500.6:c.3110T>C	ENSP00000384792.1:p.Leu1037Pro
ENST00000587391.5:c.*2385T>C	ENSP00000465525.1:n.*2385T>C
NM_001083961.1:c.3110T>C	NP_001077430.1:p.Leu1037Pro
NM_173636.4:c.3110T>C	NP_775907.4:p.Leu1037Pro
XM_005258809.2:c.2999T>C	XP_005258866.1:p.Leu1000Pro
XM_011526837.1:c.3095T>C	XP_011525139.1:p.Leu1032Pro
XM_011526838.1:c.2972-696T>C	XP_011525140.1:n.2972-696T>C
XM_011526839.1:c.2759T>C	XP_011525141.1:p.Leu920Pro
XM_011526840.1:c.2102T>C	XP_011525142.1:p.Leu701Pro
XM_011526841.1:c.1688T>C	XP_011525143.1:p.Leu563Pro
XM_011526842.1:c.1541T>C	XP_011525144.1:p.Leu514Pro
XM_011526843.1:c.857T>C	XP_011525145.1:p.Leu286Pro
XM_011526844.1:c.857T>C	XP_011525146.1:p.Leu286Pro
XM_011526840.2:c.2102T>C	XP_011525142.1:p.Leu701Pro
XM_011526841.2:c.1688T>C	XP_011525143.1:p.Leu563Pro
XM_011526844.2:c.857T>C	XP_011525146.1:p.Leu286Pro
XM_017026665.1:c.3110T>C	XP_016882154.1:p.Leu1037Pro
NM_001083961.2:c.3110T>C MANE Select	NP_001077430.1:p.Leu1037Pro
NM_173636.5:c.3110T>C	NP_775907.4:p.Leu1037Pro