Canonical Allele Identifier: CA405450358

Gene: WDR62

Linked Data

• dbSNP Id: rs1239046494
• gnomAD v2: 19-36592982-T-C
• gnomAD v3: 19-36102080-T-C
• gnomAD v4: 19-36102080-T-C
• MyVariant Identifiers: chr19:g.36592982T>C (hg19) ; chr19:g.36102080T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36102080T>C , CM000681.2:g.36102080T>C	GRCh38
NC_000019.9:g.36592982T>C , CM000681.1:g.36592982T>C	GRCh37
NC_000019.8:g.41284822T>C	NCBI36
NG_028101.1:g.52200T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3149T>C	ENSP00000270301.6:p.Leu1050Pro
ENST00000401500.7:c.3149T>C MANE Select	ENSP00000384792.1:p.Leu1050Pro
ENST00000587391.6:c.*2424T>C	ENSP00000465525.1:n.*2424T>C
ENST00000679357.1:c.939T>C
ENST00000679422.1:c.828T>C
ENST00000679682.1:c.3134T>C	ENSP00000506226.1:p.Leu1045Pro
ENST00000679714.1:c.3143T>C	ENSP00000506627.1:p.Leu1048Pro
ENST00000679757.1:c.2798T>C	ENSP00000505158.1:p.Leu933Pro
ENST00000679858.1:c.*2531T>C	ENSP00000505655.1:n.*2531T>C
ENST00000680211.1:c.-251T>C	ENSP00000506102.1:n.-251T>C
ENST00000680349.1:n.1132T>C
ENST00000680403.1:c.3149T>C	ENSP00000505677.1:p.Leu1050Pro
ENST00000680564.1:c.2972-657T>C	ENSP00000505582.1:n.2972-657T>C
ENST00000680590.1:c.*1544T>C	ENSP00000505350.1:n.*1544T>C
ENST00000680739.1:c.67T>C
ENST00000680773.1:n.1065T>C
ENST00000680806.1:c.*1867T>C	ENSP00000506418.1:n.*1867T>C
ENST00000680997.1:n.496T>C
ENST00000681088.1:c.811T>C
ENST00000681608.1:n.97T>C
ENST00000681625.1:c.*481T>C	ENSP00000505555.1:n.*481T>C
ENST00000270301.11:c.3149T>C	ENSP00000270301.6:p.Leu1050Pro
ENST00000401500.6:c.3149T>C	ENSP00000384792.1:p.Leu1050Pro
ENST00000587391.5:c.*2424T>C	ENSP00000465525.1:n.*2424T>C
NM_001083961.1:c.3149T>C	NP_001077430.1:p.Leu1050Pro
NM_173636.4:c.3149T>C	NP_775907.4:p.Leu1050Pro
XM_005258809.2:c.3038T>C	XP_005258866.1:p.Leu1013Pro
XM_011526837.1:c.3134T>C	XP_011525139.1:p.Leu1045Pro
XM_011526838.1:c.2972-657T>C	XP_011525140.1:n.2972-657T>C
XM_011526839.1:c.2798T>C	XP_011525141.1:p.Leu933Pro
XM_011526840.1:c.2141T>C	XP_011525142.1:p.Leu714Pro
XM_011526841.1:c.1727T>C	XP_011525143.1:p.Leu576Pro
XM_011526842.1:c.1580T>C	XP_011525144.1:p.Leu527Pro
XM_011526843.1:c.896T>C	XP_011525145.1:p.Leu299Pro
XM_011526844.1:c.896T>C	XP_011525146.1:p.Leu299Pro
XM_011526840.2:c.2141T>C	XP_011525142.1:p.Leu714Pro
XM_011526841.2:c.1727T>C	XP_011525143.1:p.Leu576Pro
XM_011526844.2:c.896T>C	XP_011525146.1:p.Leu299Pro
XM_017026665.1:c.3149T>C	XP_016882154.1:p.Leu1050Pro
NM_001083961.2:c.3149T>C MANE Select	NP_001077430.1:p.Leu1050Pro
NM_173636.5:c.3149T>C	NP_775907.4:p.Leu1050Pro