Canonical Allele Identifier: CA360458133

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852403C>G (hg19) ; chr5:g.95516699C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516699C>G , CM000667.2:g.95516699C>G	GRCh38
NC_000005.9:g.94852403C>G , CM000667.1:g.94852403C>G	GRCh37
NC_000005.8:g.94878159C>G	NCBI36
NG_023414.1:g.43307G>C , LRG_173:g.43307G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.2943G>C
ENST00000513232.2:c.*1368G>C	ENSP00000422749.2:n.*1368G>C
ENST00000698450.1:n.1872G>C
ENST00000698451.1:n.2073G>C
ENST00000698452.1:n.3144G>C
ENST00000698453.1:c.2442-113G>C	ENSP00000513735.1:n.2442-113G>C
ENST00000698454.1:c.2479G>C	ENSP00000513736.1:p.Ala827Pro
ENST00000698455.1:c.*2629G>C	ENSP00000513737.1:n.*2629G>C
ENST00000698456.1:c.*1346G>C	ENSP00000513738.1:n.*1346G>C
ENST00000698457.1:c.2278G>C	ENSP00000513739.1:p.Ala760Pro
ENST00000698458.1:c.2478-113G>C	ENSP00000513740.1:n.2478-113G>C
ENST00000698459.1:c.2488G>C	ENSP00000513741.1:p.Ala830Pro
ENST00000698460.1:c.*279-113G>C	ENSP00000513742.1:n.*279-113G>C
ENST00000698461.1:n.2943G>C
ENST00000698462.1:n.2863G>C
ENST00000698468.1:n.3144G>C
ENST00000698469.1:c.*2000G>C	ENSP00000513743.1:n.*2000G>C
ENST00000698470.1:c.*495G>C	ENSP00000513744.1:n.*495G>C
ENST00000698471.1:n.2943G>C
ENST00000698472.1:c.*1368G>C	ENSP00000513745.1:n.*1368G>C
ENST00000698473.1:n.2943G>C
ENST00000698474.1:n.2943G>C
ENST00000698475.1:n.3028G>C
ENST00000698476.1:c.2488G>C	ENSP00000513746.1:p.Ala830Pro
ENST00000698477.1:c.2442-113G>C	ENSP00000513747.1:n.2442-113G>C
ENST00000698478.1:n.2943G>C
ENST00000698479.1:c.2488G>C	ENSP00000513748.1:p.Ala830Pro
ENST00000698480.1:c.2437-113G>C	ENSP00000513749.1:n.2437-113G>C
ENST00000698481.1:c.2437-113G>C	ENSP00000513750.1:n.2437-113G>C
ENST00000698482.1:n.2778G>C
ENST00000698483.1:n.2943G>C
ENST00000698484.1:c.2488G>C	ENSP00000513751.1:p.Ala830Pro
ENST00000698485.1:c.2437-113G>C	ENSP00000513752.1:n.2437-113G>C
ENST00000698486.1:n.2943G>C
ENST00000698487.1:c.2488G>C	ENSP00000513753.1:p.Ala830Pro
ENST00000698488.1:c.2260-113G>C	ENSP00000513754.1:n.2260-113G>C
ENST00000698489.1:n.6728G>C
ENST00000698490.1:c.2488G>C	ENSP00000513755.1:p.Ala830Pro
ENST00000698492.1:c.*1203G>C	ENSP00000513756.1:n.*1203G>C
ENST00000698493.1:n.2778G>C
ENST00000698494.1:c.*383G>C	ENSP00000513757.1:n.*383G>C
ENST00000358746.7:c.2488G>C MANE Select	ENSP00000351596.3:p.Ala830Pro
ENST00000649566.1:c.2488G>C	ENSP00000497948.1:p.Ala830Pro
ENST00000358746.6:c.2488G>C	ENSP00000351596.2:p.Ala830Pro
ENST00000506007.1:n.70G>C
ENST00000507805.5:n.675G>C
NM_014639.3:c.2488G>C , LRG_173t1:c.2488G>C	NP_055454.1:p.Ala830Pro
XR_948312.1:n.2757G>C
XR_001742370.2:n.2760G>C
NM_014639.4:c.2488G>C MANE Select	NP_055454.1:p.Ala830Pro