Canonical Allele Identifier: CA1565024422

Gene: SKIC3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516729G= , CM000667.2:g.95516729G=	GRCh38
NC_000005.9:g.94852433G= , CM000667.1:g.94852433G=	GRCh37
NC_000005.8:g.94878189G=	NCBI36
NG_023414.1:g.43277C= , LRG_173:g.43277C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.2913C=
ENST00000513232.2:c.*1338C=	ENSP00000422749.2:n.*1338C=
ENST00000698450.1:n.1842C=
ENST00000698451.1:n.2043C=
ENST00000698452.1:n.3114C=
ENST00000698453.1:c.2442-143C=	ENSP00000513735.1:n.2442-143C=
ENST00000698454.1:c.2449C=	ENSP00000513736.1:p.Leu817=
ENST00000698455.1:c.*2599C=	ENSP00000513737.1:n.*2599C=
ENST00000698456.1:c.*1316C=	ENSP00000513738.1:n.*1316C=
ENST00000698457.1:c.2248C=	ENSP00000513739.1:p.Leu750=
ENST00000698458.1:c.2478-143C=	ENSP00000513740.1:n.2478-143C=
ENST00000698459.1:c.2458C=	ENSP00000513741.1:p.Leu820=
ENST00000698460.1:c.*279-143C=	ENSP00000513742.1:n.*279-143C=
ENST00000698461.1:n.2913C=
ENST00000698462.1:n.2833C=
ENST00000698468.1:n.3114C=
ENST00000698469.1:c.*1970C=	ENSP00000513743.1:n.*1970C=
ENST00000698470.1:c.*465C=	ENSP00000513744.1:n.*465C=
ENST00000698471.1:n.2913C=
ENST00000698472.1:c.*1338C=	ENSP00000513745.1:n.*1338C=
ENST00000698473.1:n.2913C=
ENST00000698474.1:n.2913C=
ENST00000698475.1:n.2998C=
ENST00000698476.1:c.2458C=	ENSP00000513746.1:p.Leu820=
ENST00000698477.1:c.2442-143C=	ENSP00000513747.1:n.2442-143C=
ENST00000698478.1:n.2913C=
ENST00000698479.1:c.2458C=	ENSP00000513748.1:p.Leu820=
ENST00000698480.1:c.2437-143C=	ENSP00000513749.1:n.2437-143C=
ENST00000698481.1:c.2437-143C=	ENSP00000513750.1:n.2437-143C=
ENST00000698482.1:n.2748C=
ENST00000698483.1:n.2913C=
ENST00000698484.1:c.2458C=	ENSP00000513751.1:p.Leu820=
ENST00000698485.1:c.2437-143C=	ENSP00000513752.1:n.2437-143C=
ENST00000698486.1:n.2913C=
ENST00000698487.1:c.2458C=	ENSP00000513753.1:p.Leu820=
ENST00000698488.1:c.2260-143C=	ENSP00000513754.1:n.2260-143C=
ENST00000698489.1:n.6698C=
ENST00000698490.1:c.2458C=	ENSP00000513755.1:p.Leu820=
ENST00000698492.1:c.*1173C=	ENSP00000513756.1:n.*1173C=
ENST00000698493.1:n.2748C=
ENST00000698494.1:c.*353C=	ENSP00000513757.1:n.*353C=
ENST00000358746.7:c.2458C= MANE Select	ENSP00000351596.3:p.Leu820=
ENST00000649566.1:c.2458C=	ENSP00000497948.1:p.Leu820=
ENST00000358746.6:c.2458C=	ENSP00000351596.2:p.Leu820=
ENST00000506007.1:n.40C=
ENST00000507805.5:n.645C=
NM_014639.3:c.2458C= , LRG_173t1:c.2458C=	NP_055454.1:p.Leu820=
XR_948312.1:n.2727C=
XR_001742370.2:n.2730C=
NM_014639.4:c.2458C= MANE Select	NP_055454.1:p.Leu820=