Canonical Allele Identifier: CA122852534

Gene: SKIC3

Linked Data

• dbSNP Id: rs957202008
• MyVariant Identifiers: chr5:g.94852384C>T (hg19) ; chr5:g.95516680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516680C>T , CM000667.2:g.95516680C>T	GRCh38
NC_000005.9:g.94852384C>T , CM000667.1:g.94852384C>T	GRCh37
NC_000005.8:g.94878140C>T	NCBI36
NG_023414.1:g.43326G>A , LRG_173:g.43326G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.2962G>A
ENST00000513232.2:c.*1387G>A	ENSP00000422749.2:n.*1387G>A
ENST00000698450.1:n.1891G>A
ENST00000698451.1:n.2092G>A
ENST00000698452.1:n.3163G>A
ENST00000698453.1:c.2442-94G>A	ENSP00000513735.1:n.2442-94G>A
ENST00000698454.1:c.2498G>A	ENSP00000513736.1:p.Cys833Tyr
ENST00000698455.1:c.*2648G>A	ENSP00000513737.1:n.*2648G>A
ENST00000698456.1:c.*1365G>A	ENSP00000513738.1:n.*1365G>A
ENST00000698457.1:c.2297G>A	ENSP00000513739.1:p.Cys766Tyr
ENST00000698458.1:c.2478-94G>A	ENSP00000513740.1:n.2478-94G>A
ENST00000698459.1:c.2507G>A	ENSP00000513741.1:p.Cys836Tyr
ENST00000698460.1:c.*279-94G>A	ENSP00000513742.1:n.*279-94G>A
ENST00000698461.1:n.2962G>A
ENST00000698462.1:n.2882G>A
ENST00000698468.1:n.3163G>A
ENST00000698469.1:c.*2019G>A	ENSP00000513743.1:n.*2019G>A
ENST00000698470.1:c.*514G>A	ENSP00000513744.1:n.*514G>A
ENST00000698471.1:n.2962G>A
ENST00000698472.1:c.*1387G>A	ENSP00000513745.1:n.*1387G>A
ENST00000698473.1:n.2962G>A
ENST00000698474.1:n.2962G>A
ENST00000698475.1:n.3047G>A
ENST00000698476.1:c.2507G>A	ENSP00000513746.1:p.Cys836Tyr
ENST00000698477.1:c.2442-94G>A	ENSP00000513747.1:n.2442-94G>A
ENST00000698478.1:n.2962G>A
ENST00000698479.1:c.2507G>A	ENSP00000513748.1:p.Cys836Tyr
ENST00000698480.1:c.2437-94G>A	ENSP00000513749.1:n.2437-94G>A
ENST00000698481.1:c.2437-94G>A	ENSP00000513750.1:n.2437-94G>A
ENST00000698482.1:n.2797G>A
ENST00000698483.1:n.2962G>A
ENST00000698484.1:c.2507G>A	ENSP00000513751.1:p.Cys836Tyr
ENST00000698485.1:c.2437-94G>A	ENSP00000513752.1:n.2437-94G>A
ENST00000698486.1:n.2962G>A
ENST00000698487.1:c.2507G>A	ENSP00000513753.1:p.Cys836Tyr
ENST00000698488.1:c.2260-94G>A	ENSP00000513754.1:n.2260-94G>A
ENST00000698489.1:n.6747G>A
ENST00000698490.1:c.2507G>A	ENSP00000513755.1:p.Cys836Tyr
ENST00000698492.1:c.*1222G>A	ENSP00000513756.1:n.*1222G>A
ENST00000698493.1:n.2797G>A
ENST00000698494.1:c.*402G>A	ENSP00000513757.1:n.*402G>A
ENST00000358746.7:c.2507G>A MANE Select	ENSP00000351596.3:p.Cys836Tyr
ENST00000649566.1:c.2507G>A	ENSP00000497948.1:p.Cys836Tyr
ENST00000358746.6:c.2507G>A	ENSP00000351596.2:p.Cys836Tyr
ENST00000506007.1:n.89G>A
ENST00000507805.5:n.694G>A
NM_014639.3:c.2507G>A , LRG_173t1:c.2507G>A	NP_055454.1:p.Cys836Tyr
XR_948312.1:n.2776G>A
XR_001742370.2:n.2779G>A
NM_014639.4:c.2507G>A MANE Select	NP_055454.1:p.Cys836Tyr