Canonical Allele Identifier: CA360463833
Gene: SKIC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.95523655C>T , CM000667.2:g.95523655C>T GRCh38
NC_000005.9:g.94859359C>T , CM000667.1:g.94859359C>T GRCh37
NC_000005.8:g.94885115C>T NCBI36
NG_023414.1:g.36351G>A , LRG_173:g.36351G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000506007.2:n.1922G>A
ENST00000513232.2:c.*347G>A ENSP00000422749.2:n.*347G>A
ENST00000698450.1:n.1016G>A
ENST00000698451.1:n.1052G>A
ENST00000698452.1:n.2123G>A
ENST00000698453.1:c.1632G>A ENSP00000513735.1:p.Met544Ile
ENST00000698454.1:c.1623G>A ENSP00000513736.1:p.Met541Ile
ENST00000698455.1:c.*1608G>A ENSP00000513737.1:n.*1608G>A
ENST00000698456.1:c.*490G>A ENSP00000513738.1:n.*490G>A
ENST00000698457.1:c.1632G>A ENSP00000513739.1:p.Met544Ile
ENST00000698458.1:c.1668G>A ENSP00000513740.1:p.Met556Ile
ENST00000698459.1:c.1632G>A ENSP00000513741.1:p.Met544Ile
ENST00000698460.1:c.1632G>A ENSP00000513742.1:p.Met544Ile
ENST00000698461.1:n.1922G>A
ENST00000698462.1:n.1922G>A
ENST00000698468.1:n.2123G>A
ENST00000698469.1:c.*979G>A ENSP00000513743.1:n.*979G>A
ENST00000698470.1:c.1632G>A ENSP00000513744.1:p.Met544Ile
ENST00000698471.1:n.1922G>A
ENST00000698472.1:c.*347G>A ENSP00000513745.1:n.*347G>A
ENST00000698473.1:n.1922G>A
ENST00000698474.1:n.1922G>A
ENST00000698475.1:n.1922G>A
ENST00000698476.1:c.1632G>A ENSP00000513746.1:p.Met544Ile
ENST00000698477.1:c.1632G>A ENSP00000513747.1:p.Met544Ile
ENST00000698478.1:n.1922G>A
ENST00000698479.1:c.1632G>A ENSP00000513748.1:p.Met544Ile
ENST00000698480.1:c.1632G>A ENSP00000513749.1:p.Met544Ile
ENST00000698481.1:c.1632G>A ENSP00000513750.1:p.Met544Ile
ENST00000698482.1:n.1922G>A
ENST00000698483.1:n.1922G>A
ENST00000698484.1:c.1632G>A ENSP00000513751.1:p.Met544Ile
ENST00000698485.1:c.1632G>A ENSP00000513752.1:p.Met544Ile
ENST00000698486.1:n.1922G>A
ENST00000698487.1:c.1632G>A ENSP00000513753.1:p.Met544Ile
ENST00000698488.1:c.1632G>A ENSP00000513754.1:p.Met544Ile
ENST00000698489.1:n.5707G>A
ENST00000698490.1:c.1632G>A ENSP00000513755.1:p.Met544Ile
ENST00000698492.1:c.*347G>A ENSP00000513756.1:n.*347G>A
ENST00000698493.1:n.1922G>A
ENST00000698494.1:c.1632G>A ENSP00000513757.1:p.Met544Ile
ENST00000358746.7:c.1632G>A MANE Select ENSP00000351596.3:p.Met544Ile
ENST00000649566.1:c.1632G>A ENSP00000497948.1:p.Met544Ile
ENST00000358746.6:c.1632G>A ENSP00000351596.2:p.Met544Ile
ENST00000505578.5:c.320-329G>A ENSP00000423141.1:n.320-329G>A
ENST00000513232.1:c.449G>A ENSP00000422749.1:n.449G>A
ENST00000514952.5:c.1488G>A ENSP00000423742.1:p.Met496Ile
NM_014639.3:c.1632G>A , LRG_173t1:c.1632G>A NP_055454.1:p.Met544Ile
XR_948312.1:n.1901G>A
XR_001742370.2:n.1904G>A
NM_014639.4:c.1632G>A MANE Select NP_055454.1:p.Met544Ile