Canonical Allele Identifier: CA360457816

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852267G>C (hg19) ; chr5:g.95516563G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516563G>C , CM000667.2:g.95516563G>C	GRCh38
NC_000005.9:g.94852267G>C , CM000667.1:g.94852267G>C	GRCh37
NC_000005.8:g.94878023G>C	NCBI36
NG_023414.1:g.43443C>G , LRG_173:g.43443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.3079C>G
ENST00000513232.2:c.*1504C>G	ENSP00000422749.2:n.*1504C>G
ENST00000698450.1:n.1923C>G
ENST00000698451.1:n.2209C>G
ENST00000698452.1:n.3280C>G
ENST00000698453.1:c.2465C>G	ENSP00000513735.1:p.Ser822Ter
ENST00000698454.1:c.2530C>G	ENSP00000513736.1:p.Gln844Glu
ENST00000698455.1:c.*2765C>G	ENSP00000513737.1:n.*2765C>G
ENST00000698456.1:c.*1397C>G	ENSP00000513738.1:n.*1397C>G
ENST00000698457.1:c.2329C>G	ENSP00000513739.1:p.Gln777Glu
ENST00000698458.1:c.2501C>G	ENSP00000513740.1:p.Ser834Ter
ENST00000698459.1:c.2539C>G	ENSP00000513741.1:p.Gln847Glu
ENST00000698460.1:c.*302C>G	ENSP00000513742.1:n.*302C>G
ENST00000698461.1:n.2994C>G
ENST00000698462.1:n.2914C>G
ENST00000698468.1:n.3280C>G
ENST00000698469.1:c.*2136C>G	ENSP00000513743.1:n.*2136C>G
ENST00000698470.1:c.*631C>G	ENSP00000513744.1:n.*631C>G
ENST00000698471.1:n.3079C>G
ENST00000698472.1:c.*1504C>G	ENSP00000513745.1:n.*1504C>G
ENST00000698473.1:n.3079C>G
ENST00000698474.1:n.3079C>G
ENST00000698475.1:n.3164C>G
ENST00000698476.1:c.2539C>G	ENSP00000513746.1:p.Gln847Glu
ENST00000698477.1:c.2465C>G	ENSP00000513747.1:p.Ser822Ter
ENST00000698478.1:n.3079C>G
ENST00000698479.1:c.2539C>G	ENSP00000513748.1:p.Gln847Glu
ENST00000698480.1:c.2460C>G	ENSP00000513749.1:p.Leu820=
ENST00000698481.1:c.2460C>G	ENSP00000513750.1:p.Leu820=
ENST00000698482.1:n.2829C>G
ENST00000698483.1:n.2994C>G
ENST00000698484.1:c.2539C>G	ENSP00000513751.1:p.Gln847Glu
ENST00000698485.1:c.2460C>G	ENSP00000513752.1:p.Leu820=
ENST00000698486.1:n.3079C>G
ENST00000698487.1:c.2539C>G	ENSP00000513753.1:p.Gln847Glu
ENST00000698488.1:c.2283C>G	ENSP00000513754.1:p.Leu761=
ENST00000698489.1:n.6864C>G
ENST00000698490.1:c.2539C>G	ENSP00000513755.1:p.Gln847Glu
ENST00000698492.1:c.*1254C>G	ENSP00000513756.1:n.*1254C>G
ENST00000698493.1:n.2829C>G
ENST00000698494.1:c.*519C>G	ENSP00000513757.1:n.*519C>G
ENST00000358746.7:c.2539C>G MANE Select	ENSP00000351596.3:p.Gln847Glu
ENST00000649566.1:c.2539C>G	ENSP00000497948.1:p.Gln847Glu
ENST00000358746.6:c.2539C>G	ENSP00000351596.2:p.Gln847Glu
ENST00000506007.1:n.206C>G
ENST00000507805.5:n.811C>G
ENST00000508181.5:n.112C>G
NM_014639.3:c.2539C>G , LRG_173t1:c.2539C>G	NP_055454.1:p.Gln847Glu
XR_948312.1:n.2808C>G
XR_001742370.2:n.2811C>G
NM_014639.4:c.2539C>G MANE Select	NP_055454.1:p.Gln847Glu