Canonical Allele Identifier: CA360457890

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852285C>A (hg19) ; chr5:g.95516581C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516581C>A , CM000667.2:g.95516581C>A	GRCh38
NC_000005.9:g.94852285C>A , CM000667.1:g.94852285C>A	GRCh37
NC_000005.8:g.94878041C>A	NCBI36
NG_023414.1:g.43425G>T , LRG_173:g.43425G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.3061G>T
ENST00000513232.2:c.*1486G>T	ENSP00000422749.2:n.*1486G>T
ENST00000698450.1:n.1905G>T
ENST00000698451.1:n.2191G>T
ENST00000698452.1:n.3262G>T
ENST00000698453.1:c.2447G>T	ENSP00000513735.1:p.Trp816Leu
ENST00000698454.1:c.2512G>T	ENSP00000513736.1:p.Gly838Ter
ENST00000698455.1:c.*2747G>T	ENSP00000513737.1:n.*2747G>T
ENST00000698456.1:c.*1379G>T	ENSP00000513738.1:n.*1379G>T
ENST00000698457.1:c.2311G>T	ENSP00000513739.1:p.Gly771Ter
ENST00000698458.1:c.2483G>T	ENSP00000513740.1:p.Trp828Leu
ENST00000698459.1:c.2521G>T	ENSP00000513741.1:p.Gly841Ter
ENST00000698460.1:c.*284G>T	ENSP00000513742.1:n.*284G>T
ENST00000698461.1:n.2976G>T
ENST00000698462.1:n.2896G>T
ENST00000698468.1:n.3262G>T
ENST00000698469.1:c.*2118G>T	ENSP00000513743.1:n.*2118G>T
ENST00000698470.1:c.*613G>T	ENSP00000513744.1:n.*613G>T
ENST00000698471.1:n.3061G>T
ENST00000698472.1:c.*1486G>T	ENSP00000513745.1:n.*1486G>T
ENST00000698473.1:n.3061G>T
ENST00000698474.1:n.3061G>T
ENST00000698475.1:n.3146G>T
ENST00000698476.1:c.2521G>T	ENSP00000513746.1:p.Gly841Ter
ENST00000698477.1:c.2447G>T	ENSP00000513747.1:p.Trp816Leu
ENST00000698478.1:n.3061G>T
ENST00000698479.1:c.2521G>T	ENSP00000513748.1:p.Gly841Ter
ENST00000698480.1:c.2442G>T	ENSP00000513749.1:p.Leu814Phe
ENST00000698481.1:c.2442G>T	ENSP00000513750.1:p.Leu814Phe
ENST00000698482.1:n.2811G>T
ENST00000698483.1:n.2976G>T
ENST00000698484.1:c.2521G>T	ENSP00000513751.1:p.Gly841Ter
ENST00000698485.1:c.2442G>T	ENSP00000513752.1:p.Leu814Phe
ENST00000698486.1:n.3061G>T
ENST00000698487.1:c.2521G>T	ENSP00000513753.1:p.Gly841Ter
ENST00000698488.1:c.2265G>T	ENSP00000513754.1:p.Leu755Phe
ENST00000698489.1:n.6846G>T
ENST00000698490.1:c.2521G>T	ENSP00000513755.1:p.Gly841Ter
ENST00000698492.1:c.*1236G>T	ENSP00000513756.1:n.*1236G>T
ENST00000698493.1:n.2811G>T
ENST00000698494.1:c.*501G>T	ENSP00000513757.1:n.*501G>T
ENST00000358746.7:c.2521G>T MANE Select	ENSP00000351596.3:p.Gly841Ter
ENST00000649566.1:c.2521G>T	ENSP00000497948.1:p.Gly841Ter
ENST00000358746.6:c.2521G>T	ENSP00000351596.2:p.Gly841Ter
ENST00000506007.1:n.188G>T
ENST00000507805.5:n.793G>T
ENST00000508181.5:n.94G>T
NM_014639.3:c.2521G>T , LRG_173t1:c.2521G>T	NP_055454.1:p.Gly841Ter
XR_948312.1:n.2790G>T
XR_001742370.2:n.2793G>T
NM_014639.4:c.2521G>T MANE Select	NP_055454.1:p.Gly841Ter