Canonical Allele Identifier: CA360463851

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94859366T>G (hg19) ; chr5:g.95523662T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95523662T>G , CM000667.2:g.95523662T>G	GRCh38
NC_000005.9:g.94859366T>G , CM000667.1:g.94859366T>G	GRCh37
NC_000005.8:g.94885122T>G	NCBI36
NG_023414.1:g.36344A>C , LRG_173:g.36344A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.1915A>C
ENST00000513232.2:c.*340A>C	ENSP00000422749.2:n.*340A>C
ENST00000698450.1:n.1009A>C
ENST00000698451.1:n.1045A>C
ENST00000698452.1:n.2116A>C
ENST00000698453.1:c.1625A>C	ENSP00000513735.1:p.Glu542Ala
ENST00000698454.1:c.1616A>C	ENSP00000513736.1:p.Glu539Ala
ENST00000698455.1:c.*1601A>C	ENSP00000513737.1:n.*1601A>C
ENST00000698456.1:c.*483A>C	ENSP00000513738.1:n.*483A>C
ENST00000698457.1:c.1625A>C	ENSP00000513739.1:p.Glu542Ala
ENST00000698458.1:c.1661A>C	ENSP00000513740.1:p.Glu554Ala
ENST00000698459.1:c.1625A>C	ENSP00000513741.1:p.Glu542Ala
ENST00000698460.1:c.1625A>C	ENSP00000513742.1:p.Glu542Ala
ENST00000698461.1:n.1915A>C
ENST00000698462.1:n.1915A>C
ENST00000698468.1:n.2116A>C
ENST00000698469.1:c.*972A>C	ENSP00000513743.1:n.*972A>C
ENST00000698470.1:c.1625A>C	ENSP00000513744.1:p.Glu542Ala
ENST00000698471.1:n.1915A>C
ENST00000698472.1:c.*340A>C	ENSP00000513745.1:n.*340A>C
ENST00000698473.1:n.1915A>C
ENST00000698474.1:n.1915A>C
ENST00000698475.1:n.1915A>C
ENST00000698476.1:c.1625A>C	ENSP00000513746.1:p.Glu542Ala
ENST00000698477.1:c.1625A>C	ENSP00000513747.1:p.Glu542Ala
ENST00000698478.1:n.1915A>C
ENST00000698479.1:c.1625A>C	ENSP00000513748.1:p.Glu542Ala
ENST00000698480.1:c.1625A>C	ENSP00000513749.1:p.Glu542Ala
ENST00000698481.1:c.1625A>C	ENSP00000513750.1:p.Glu542Ala
ENST00000698482.1:n.1915A>C
ENST00000698483.1:n.1915A>C
ENST00000698484.1:c.1625A>C	ENSP00000513751.1:p.Glu542Ala
ENST00000698485.1:c.1625A>C	ENSP00000513752.1:p.Glu542Ala
ENST00000698486.1:n.1915A>C
ENST00000698487.1:c.1625A>C	ENSP00000513753.1:p.Glu542Ala
ENST00000698488.1:c.1625A>C	ENSP00000513754.1:p.Glu542Ala
ENST00000698489.1:n.5700A>C
ENST00000698490.1:c.1625A>C	ENSP00000513755.1:p.Glu542Ala
ENST00000698492.1:c.*340A>C	ENSP00000513756.1:n.*340A>C
ENST00000698493.1:n.1915A>C
ENST00000698494.1:c.1625A>C	ENSP00000513757.1:p.Glu542Ala
ENST00000358746.7:c.1625A>C MANE Select	ENSP00000351596.3:p.Glu542Ala
ENST00000649566.1:c.1625A>C	ENSP00000497948.1:p.Glu542Ala
ENST00000358746.6:c.1625A>C	ENSP00000351596.2:p.Glu542Ala
ENST00000505578.5:c.320-336A>C	ENSP00000423141.1:n.320-336A>C
ENST00000513232.1:c.442A>C	ENSP00000422749.1:n.442A>C
ENST00000514952.5:c.1481A>C	ENSP00000423742.1:p.Glu494Ala
NM_014639.3:c.1625A>C , LRG_173t1:c.1625A>C	NP_055454.1:p.Glu542Ala
XR_948312.1:n.1894A>C
XR_001742370.2:n.1897A>C
NM_014639.4:c.1625A>C MANE Select	NP_055454.1:p.Glu542Ala