Canonical Allele Identifier: CA174582

Gene: SKIC3

Linked Data

• ClinVar Variation Id: 161678
• ClinVar RCV Id: RCV000149214
• dbSNP Id: rs193920885
• COSMIC: COSM1179945
• MyVariant Identifiers: chr5:g.94878982C>G (hg19) ; chr5:g.95543278C>G (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95543278C>G , CM000667.2:g.95543278C>G	GRCh38
NC_000005.9:g.94878982C>G , CM000667.1:g.94878982C>G	GRCh37
NC_000005.8:g.94904738C>G	NCBI36
NG_023414.1:g.16728G>C , LRG_173:g.16728G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.430G>C
ENST00000513232.2:c.140G>C	ENSP00000422749.2:p.Gly47Ala
ENST00000515207.2:n.441G>C
ENST00000698452.1:n.631G>C
ENST00000698453.1:c.140G>C	ENSP00000513735.1:p.Gly47Ala
ENST00000698454.1:c.131G>C	ENSP00000513736.1:p.Gly44Ala
ENST00000698455.1:c.*116G>C	ENSP00000513737.1:n.*116G>C
ENST00000698456.1:c.140G>C	ENSP00000513738.1:p.Gly47Ala
ENST00000698457.1:c.140G>C	ENSP00000513739.1:p.Gly47Ala
ENST00000698458.1:c.140G>C	ENSP00000513740.1:p.Gly47Ala
ENST00000698459.1:c.140G>C	ENSP00000513741.1:p.Gly47Ala
ENST00000698460.1:c.140G>C	ENSP00000513742.1:p.Gly47Ala
ENST00000698461.1:n.430G>C
ENST00000698462.1:n.430G>C
ENST00000698468.1:n.631G>C
ENST00000698469.1:c.140G>C	ENSP00000513743.1:p.Gly47Ala
ENST00000698470.1:c.140G>C	ENSP00000513744.1:p.Gly47Ala
ENST00000698471.1:n.430G>C
ENST00000698472.1:c.140G>C	ENSP00000513745.1:p.Gly47Ala
ENST00000698473.1:n.430G>C
ENST00000698474.1:n.430G>C
ENST00000698475.1:n.430G>C
ENST00000698476.1:c.140G>C	ENSP00000513746.1:p.Gly47Ala
ENST00000698477.1:c.140G>C	ENSP00000513747.1:p.Gly47Ala
ENST00000698478.1:n.430G>C
ENST00000698479.1:c.140G>C	ENSP00000513748.1:p.Gly47Ala
ENST00000698480.1:c.140G>C	ENSP00000513749.1:p.Gly47Ala
ENST00000698481.1:c.140G>C	ENSP00000513750.1:p.Gly47Ala
ENST00000698482.1:n.430G>C
ENST00000698483.1:n.430G>C
ENST00000698484.1:c.140G>C	ENSP00000513751.1:p.Gly47Ala
ENST00000698485.1:c.140G>C	ENSP00000513752.1:p.Gly47Ala
ENST00000698486.1:n.430G>C
ENST00000698487.1:c.140G>C	ENSP00000513753.1:p.Gly47Ala
ENST00000698488.1:c.140G>C	ENSP00000513754.1:p.Gly47Ala
ENST00000698489.1:n.4215G>C
ENST00000698490.1:c.140G>C	ENSP00000513755.1:p.Gly47Ala
ENST00000698492.1:c.140G>C	ENSP00000513756.1:p.Gly47Ala
ENST00000698493.1:n.430G>C
ENST00000698494.1:c.140G>C	ENSP00000513757.1:p.Gly47Ala
ENST00000698495.1:n.430G>C
ENST00000698496.1:n.430G>C
ENST00000698497.1:n.54G>C
ENST00000698498.1:n.1191G>C
ENST00000358746.7:c.140G>C MANE Select	ENSP00000351596.3:p.Gly47Ala
ENST00000649566.1:c.140G>C	ENSP00000497948.1:p.Gly47Ala
ENST00000358746.6:c.140G>C	ENSP00000351596.2:p.Gly47Ala
ENST00000513823.5:c.140G>C	ENSP00000425403.1:p.Gly47Ala
ENST00000514952.5:c.91-1372G>C	ENSP00000423742.1:n.91-1372G>C
NM_014639.3:c.140G>C , LRG_173t1:c.140G>C	NP_055454.1:p.Gly47Ala
XR_948312.1:n.409G>C
XR_001742370.2:n.412G>C
NM_014639.4:c.140G>C MANE Select	NP_055454.1:p.Gly47Ala