Canonical Allele Identifier: CA445717356
Gene: SKIC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.94852451G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.95516747G>A , CM000667.2:g.95516747G>A GRCh38
NC_000005.9:g.94852451G>A , CM000667.1:g.94852451G>A GRCh37
NC_000005.8:g.94878207G>A NCBI36
NG_023414.1:g.43259C>T , LRG_173:g.43259C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000506007.2:n.2895C>T
ENST00000513232.2:c.*1320C>T ENSP00000422749.2:n.*1320C>T
ENST00000698450.1:n.1824C>T
ENST00000698451.1:n.2025C>T
ENST00000698452.1:n.3096C>T
ENST00000698453.1:c.2442-161C>T ENSP00000513735.1:n.2442-161C>T
ENST00000698454.1:c.2431C>T ENSP00000513736.1:p.Leu811=
ENST00000698455.1:c.*2581C>T ENSP00000513737.1:n.*2581C>T
ENST00000698456.1:c.*1298C>T ENSP00000513738.1:n.*1298C>T
ENST00000698457.1:c.2230C>T ENSP00000513739.1:p.Leu744=
ENST00000698458.1:c.2478-161C>T ENSP00000513740.1:n.2478-161C>T
ENST00000698459.1:c.2440C>T ENSP00000513741.1:p.Leu814=
ENST00000698460.1:c.*279-161C>T ENSP00000513742.1:n.*279-161C>T
ENST00000698461.1:n.2895C>T
ENST00000698462.1:n.2815C>T
ENST00000698468.1:n.3096C>T
ENST00000698469.1:c.*1952C>T ENSP00000513743.1:n.*1952C>T
ENST00000698470.1:c.*447C>T ENSP00000513744.1:n.*447C>T
ENST00000698471.1:n.2895C>T
ENST00000698472.1:c.*1320C>T ENSP00000513745.1:n.*1320C>T
ENST00000698473.1:n.2895C>T
ENST00000698474.1:n.2895C>T
ENST00000698475.1:n.2980C>T
ENST00000698476.1:c.2440C>T ENSP00000513746.1:p.Leu814=
ENST00000698477.1:c.2442-161C>T ENSP00000513747.1:n.2442-161C>T
ENST00000698478.1:n.2895C>T
ENST00000698479.1:c.2440C>T ENSP00000513748.1:p.Leu814=
ENST00000698480.1:c.2437-161C>T ENSP00000513749.1:n.2437-161C>T
ENST00000698481.1:c.2437-161C>T ENSP00000513750.1:n.2437-161C>T
ENST00000698482.1:n.2730C>T
ENST00000698483.1:n.2895C>T
ENST00000698484.1:c.2440C>T ENSP00000513751.1:p.Leu814=
ENST00000698485.1:c.2437-161C>T ENSP00000513752.1:n.2437-161C>T
ENST00000698486.1:n.2895C>T
ENST00000698487.1:c.2440C>T ENSP00000513753.1:p.Leu814=
ENST00000698488.1:c.2260-161C>T ENSP00000513754.1:n.2260-161C>T
ENST00000698489.1:n.6680C>T
ENST00000698490.1:c.2440C>T ENSP00000513755.1:p.Leu814=
ENST00000698492.1:c.*1155C>T ENSP00000513756.1:n.*1155C>T
ENST00000698493.1:n.2730C>T
ENST00000698494.1:c.*335C>T ENSP00000513757.1:n.*335C>T
ENST00000358746.7:c.2440C>T MANE Select ENSP00000351596.3:p.Leu814=
ENST00000649566.1:c.2440C>T ENSP00000497948.1:p.Leu814=
ENST00000358746.6:c.2440C>T ENSP00000351596.2:p.Leu814=
ENST00000506007.1:n.22C>T
ENST00000507805.5:n.627C>T
NM_014639.3:c.2440C>T , LRG_173t1:c.2440C>T NP_055454.1:p.Leu814=
XR_948312.1:n.2709C>T
XR_001742370.2:n.2712C>T
NM_014639.4:c.2440C>T MANE Select NP_055454.1:p.Leu814=