Canonical Allele Identifier: CA360457845

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852275G>T (hg19) ; chr5:g.95516571G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516571G>T , CM000667.2:g.95516571G>T	GRCh38
NC_000005.9:g.94852275G>T , CM000667.1:g.94852275G>T	GRCh37
NC_000005.8:g.94878031G>T	NCBI36
NG_023414.1:g.43435C>A , LRG_173:g.43435C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.3071C>A
ENST00000513232.2:c.*1496C>A	ENSP00000422749.2:n.*1496C>A
ENST00000698450.1:n.1915C>A
ENST00000698451.1:n.2201C>A
ENST00000698452.1:n.3272C>A
ENST00000698453.1:c.2457C>A	ENSP00000513735.1:p.Cys819Ter
ENST00000698454.1:c.2522C>A	ENSP00000513736.1:p.Ala841Asp
ENST00000698455.1:c.*2757C>A	ENSP00000513737.1:n.*2757C>A
ENST00000698456.1:c.*1389C>A	ENSP00000513738.1:n.*1389C>A
ENST00000698457.1:c.2321C>A	ENSP00000513739.1:p.Ala774Asp
ENST00000698458.1:c.2493C>A	ENSP00000513740.1:p.Cys831Ter
ENST00000698459.1:c.2531C>A	ENSP00000513741.1:p.Ala844Asp
ENST00000698460.1:c.*294C>A	ENSP00000513742.1:n.*294C>A
ENST00000698461.1:n.2986C>A
ENST00000698462.1:n.2906C>A
ENST00000698468.1:n.3272C>A
ENST00000698469.1:c.*2128C>A	ENSP00000513743.1:n.*2128C>A
ENST00000698470.1:c.*623C>A	ENSP00000513744.1:n.*623C>A
ENST00000698471.1:n.3071C>A
ENST00000698472.1:c.*1496C>A	ENSP00000513745.1:n.*1496C>A
ENST00000698473.1:n.3071C>A
ENST00000698474.1:n.3071C>A
ENST00000698475.1:n.3156C>A
ENST00000698476.1:c.2531C>A	ENSP00000513746.1:p.Ala844Asp
ENST00000698477.1:c.2457C>A	ENSP00000513747.1:p.Cys819Ter
ENST00000698478.1:n.3071C>A
ENST00000698479.1:c.2531C>A	ENSP00000513748.1:p.Ala844Asp
ENST00000698480.1:c.2452C>A	ENSP00000513749.1:p.Pro818Thr
ENST00000698481.1:c.2452C>A	ENSP00000513750.1:p.Pro818Thr
ENST00000698482.1:n.2821C>A
ENST00000698483.1:n.2986C>A
ENST00000698484.1:c.2531C>A	ENSP00000513751.1:p.Ala844Asp
ENST00000698485.1:c.2452C>A	ENSP00000513752.1:p.Pro818Thr
ENST00000698486.1:n.3071C>A
ENST00000698487.1:c.2531C>A	ENSP00000513753.1:p.Ala844Asp
ENST00000698488.1:c.2275C>A	ENSP00000513754.1:p.Pro759Thr
ENST00000698489.1:n.6856C>A
ENST00000698490.1:c.2531C>A	ENSP00000513755.1:p.Ala844Asp
ENST00000698492.1:c.*1246C>A	ENSP00000513756.1:n.*1246C>A
ENST00000698493.1:n.2821C>A
ENST00000698494.1:c.*511C>A	ENSP00000513757.1:n.*511C>A
ENST00000358746.7:c.2531C>A MANE Select	ENSP00000351596.3:p.Ala844Asp
ENST00000649566.1:c.2531C>A	ENSP00000497948.1:p.Ala844Asp
ENST00000358746.6:c.2531C>A	ENSP00000351596.2:p.Ala844Asp
ENST00000506007.1:n.198C>A
ENST00000507805.5:n.803C>A
ENST00000508181.5:n.104C>A
NM_014639.3:c.2531C>A , LRG_173t1:c.2531C>A	NP_055454.1:p.Ala844Asp
XR_948312.1:n.2800C>A
XR_001742370.2:n.2803C>A
NM_014639.4:c.2531C>A MANE Select	NP_055454.1:p.Ala844Asp