Canonical Allele Identifier: CA445482837
Gene: SKIC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.94852238T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.95516534T>A , CM000667.2:g.95516534T>A GRCh38
NC_000005.9:g.94852238T>A , CM000667.1:g.94852238T>A GRCh37
NC_000005.8:g.94877994T>A NCBI36
NG_023414.1:g.43472A>T , LRG_173:g.43472A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000506007.2:n.3108A>T
ENST00000513232.2:c.*1533A>T ENSP00000422749.2:n.*1533A>T
ENST00000698450.1:n.1952A>T
ENST00000698451.1:n.2238A>T
ENST00000698452.1:n.3309A>T
ENST00000698453.1:c.2494A>T ENSP00000513735.1:p.Arg832Ter
ENST00000698454.1:c.2559A>T ENSP00000513736.1:p.Ser853=
ENST00000698455.1:c.*2794A>T ENSP00000513737.1:n.*2794A>T
ENST00000698456.1:c.*1426A>T ENSP00000513738.1:n.*1426A>T
ENST00000698457.1:c.2358A>T ENSP00000513739.1:p.Ser786=
ENST00000698458.1:c.2530A>T ENSP00000513740.1:p.Arg844Ter
ENST00000698459.1:c.2568A>T ENSP00000513741.1:p.Ser856=
ENST00000698460.1:c.*331A>T ENSP00000513742.1:n.*331A>T
ENST00000698461.1:n.3023A>T
ENST00000698462.1:n.2943A>T
ENST00000698468.1:n.3309A>T
ENST00000698469.1:c.*2165A>T ENSP00000513743.1:n.*2165A>T
ENST00000698470.1:c.*660A>T ENSP00000513744.1:n.*660A>T
ENST00000698471.1:n.3108A>T
ENST00000698472.1:c.*1533A>T ENSP00000513745.1:n.*1533A>T
ENST00000698473.1:n.3108A>T
ENST00000698474.1:n.3108A>T
ENST00000698475.1:n.3193A>T
ENST00000698476.1:c.2568A>T ENSP00000513746.1:p.Ser856=
ENST00000698477.1:c.2494A>T ENSP00000513747.1:p.Arg832Ter
ENST00000698478.1:n.3108A>T
ENST00000698479.1:c.2568A>T ENSP00000513748.1:p.Ser856=
ENST00000698480.1:c.2489A>T ENSP00000513749.1:p.Gln830Leu
ENST00000698481.1:c.2489A>T ENSP00000513750.1:p.Gln830Leu
ENST00000698482.1:n.2858A>T
ENST00000698483.1:n.3023A>T
ENST00000698484.1:c.2568A>T ENSP00000513751.1:p.Ser856=
ENST00000698485.1:c.2489A>T ENSP00000513752.1:p.Gln830Leu
ENST00000698486.1:n.3108A>T
ENST00000698487.1:c.2568A>T ENSP00000513753.1:p.Ser856=
ENST00000698488.1:c.2312A>T ENSP00000513754.1:p.Gln771Leu
ENST00000698489.1:n.6893A>T
ENST00000698490.1:c.2568A>T ENSP00000513755.1:p.Ser856=
ENST00000698492.1:c.*1283A>T ENSP00000513756.1:n.*1283A>T
ENST00000698493.1:n.2858A>T
ENST00000698494.1:c.*548A>T ENSP00000513757.1:n.*548A>T
ENST00000358746.7:c.2568A>T MANE Select ENSP00000351596.3:p.Ser856=
ENST00000649566.1:c.2568A>T ENSP00000497948.1:p.Ser856=
ENST00000358746.6:c.2568A>T ENSP00000351596.2:p.Ser856=
ENST00000506007.1:n.235A>T
ENST00000507805.5:n.840A>T
ENST00000508181.5:n.141A>T
NM_014639.3:c.2568A>T , LRG_173t1:c.2568A>T NP_055454.1:p.Ser856=
XR_948312.1:n.2837A>T
XR_001742370.2:n.2840A>T
NM_014639.4:c.2568A>T MANE Select NP_055454.1:p.Ser856=