Canonical Allele Identifier: CA360458586
Gene: SKIC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.95516743T>C , CM000667.2:g.95516743T>C GRCh38
NC_000005.9:g.94852447T>C , CM000667.1:g.94852447T>C GRCh37
NC_000005.8:g.94878203T>C NCBI36
NG_023414.1:g.43263A>G , LRG_173:g.43263A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000506007.2:n.2899A>G
ENST00000513232.2:c.*1324A>G ENSP00000422749.2:n.*1324A>G
ENST00000698450.1:n.1828A>G
ENST00000698451.1:n.2029A>G
ENST00000698452.1:n.3100A>G
ENST00000698453.1:c.2442-157A>G ENSP00000513735.1:n.2442-157A>G
ENST00000698454.1:c.2435A>G ENSP00000513736.1:p.Lys812Arg
ENST00000698455.1:c.*2585A>G ENSP00000513737.1:n.*2585A>G
ENST00000698456.1:c.*1302A>G ENSP00000513738.1:n.*1302A>G
ENST00000698457.1:c.2234A>G ENSP00000513739.1:p.Lys745Arg
ENST00000698458.1:c.2478-157A>G ENSP00000513740.1:n.2478-157A>G
ENST00000698459.1:c.2444A>G ENSP00000513741.1:p.Lys815Arg
ENST00000698460.1:c.*279-157A>G ENSP00000513742.1:n.*279-157A>G
ENST00000698461.1:n.2899A>G
ENST00000698462.1:n.2819A>G
ENST00000698468.1:n.3100A>G
ENST00000698469.1:c.*1956A>G ENSP00000513743.1:n.*1956A>G
ENST00000698470.1:c.*451A>G ENSP00000513744.1:n.*451A>G
ENST00000698471.1:n.2899A>G
ENST00000698472.1:c.*1324A>G ENSP00000513745.1:n.*1324A>G
ENST00000698473.1:n.2899A>G
ENST00000698474.1:n.2899A>G
ENST00000698475.1:n.2984A>G
ENST00000698476.1:c.2444A>G ENSP00000513746.1:p.Lys815Arg
ENST00000698477.1:c.2442-157A>G ENSP00000513747.1:n.2442-157A>G
ENST00000698478.1:n.2899A>G
ENST00000698479.1:c.2444A>G ENSP00000513748.1:p.Lys815Arg
ENST00000698480.1:c.2437-157A>G ENSP00000513749.1:n.2437-157A>G
ENST00000698481.1:c.2437-157A>G ENSP00000513750.1:n.2437-157A>G
ENST00000698482.1:n.2734A>G
ENST00000698483.1:n.2899A>G
ENST00000698484.1:c.2444A>G ENSP00000513751.1:p.Lys815Arg
ENST00000698485.1:c.2437-157A>G ENSP00000513752.1:n.2437-157A>G
ENST00000698486.1:n.2899A>G
ENST00000698487.1:c.2444A>G ENSP00000513753.1:p.Lys815Arg
ENST00000698488.1:c.2260-157A>G ENSP00000513754.1:n.2260-157A>G
ENST00000698489.1:n.6684A>G
ENST00000698490.1:c.2444A>G ENSP00000513755.1:p.Lys815Arg
ENST00000698492.1:c.*1159A>G ENSP00000513756.1:n.*1159A>G
ENST00000698493.1:n.2734A>G
ENST00000698494.1:c.*339A>G ENSP00000513757.1:n.*339A>G
ENST00000358746.7:c.2444A>G MANE Select ENSP00000351596.3:p.Lys815Arg
ENST00000649566.1:c.2444A>G ENSP00000497948.1:p.Lys815Arg
ENST00000358746.6:c.2444A>G ENSP00000351596.2:p.Lys815Arg
ENST00000506007.1:n.26A>G
ENST00000507805.5:n.631A>G
NM_014639.3:c.2444A>G , LRG_173t1:c.2444A>G NP_055454.1:p.Lys815Arg
XR_948312.1:n.2713A>G
XR_001742370.2:n.2716A>G
NM_014639.4:c.2444A>G MANE Select NP_055454.1:p.Lys815Arg