Canonical Allele Identifier: CA360457796

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852263T>A (hg19) ; chr5:g.95516559T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516559T>A , CM000667.2:g.95516559T>A	GRCh38
NC_000005.9:g.94852263T>A , CM000667.1:g.94852263T>A	GRCh37
NC_000005.8:g.94878019T>A	NCBI36
NG_023414.1:g.43447A>T , LRG_173:g.43447A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.3083A>T
ENST00000513232.2:c.*1508A>T	ENSP00000422749.2:n.*1508A>T
ENST00000698450.1:n.1927A>T
ENST00000698451.1:n.2213A>T
ENST00000698452.1:n.3284A>T
ENST00000698453.1:c.2469A>T	ENSP00000513735.1:p.Ala823=
ENST00000698454.1:c.2534A>T	ENSP00000513736.1:p.His845Leu
ENST00000698455.1:c.*2769A>T	ENSP00000513737.1:n.*2769A>T
ENST00000698456.1:c.*1401A>T	ENSP00000513738.1:n.*1401A>T
ENST00000698457.1:c.2333A>T	ENSP00000513739.1:p.His778Leu
ENST00000698458.1:c.2505A>T	ENSP00000513740.1:p.Ala835=
ENST00000698459.1:c.2543A>T	ENSP00000513741.1:p.His848Leu
ENST00000698460.1:c.*306A>T	ENSP00000513742.1:n.*306A>T
ENST00000698461.1:n.2998A>T
ENST00000698462.1:n.2918A>T
ENST00000698468.1:n.3284A>T
ENST00000698469.1:c.*2140A>T	ENSP00000513743.1:n.*2140A>T
ENST00000698470.1:c.*635A>T	ENSP00000513744.1:n.*635A>T
ENST00000698471.1:n.3083A>T
ENST00000698472.1:c.*1508A>T	ENSP00000513745.1:n.*1508A>T
ENST00000698473.1:n.3083A>T
ENST00000698474.1:n.3083A>T
ENST00000698475.1:n.3168A>T
ENST00000698476.1:c.2543A>T	ENSP00000513746.1:p.His848Leu
ENST00000698477.1:c.2469A>T	ENSP00000513747.1:p.Ala823=
ENST00000698478.1:n.3083A>T
ENST00000698479.1:c.2543A>T	ENSP00000513748.1:p.His848Leu
ENST00000698480.1:c.2464A>T	ENSP00000513749.1:p.Thr822Ser
ENST00000698481.1:c.2464A>T	ENSP00000513750.1:p.Thr822Ser
ENST00000698482.1:n.2833A>T
ENST00000698483.1:n.2998A>T
ENST00000698484.1:c.2543A>T	ENSP00000513751.1:p.His848Leu
ENST00000698485.1:c.2464A>T	ENSP00000513752.1:p.Thr822Ser
ENST00000698486.1:n.3083A>T
ENST00000698487.1:c.2543A>T	ENSP00000513753.1:p.His848Leu
ENST00000698488.1:c.2287A>T	ENSP00000513754.1:p.Thr763Ser
ENST00000698489.1:n.6868A>T
ENST00000698490.1:c.2543A>T	ENSP00000513755.1:p.His848Leu
ENST00000698492.1:c.*1258A>T	ENSP00000513756.1:n.*1258A>T
ENST00000698493.1:n.2833A>T
ENST00000698494.1:c.*523A>T	ENSP00000513757.1:n.*523A>T
ENST00000358746.7:c.2543A>T MANE Select	ENSP00000351596.3:p.His848Leu
ENST00000649566.1:c.2543A>T	ENSP00000497948.1:p.His848Leu
ENST00000358746.6:c.2543A>T	ENSP00000351596.2:p.His848Leu
ENST00000506007.1:n.210A>T
ENST00000507805.5:n.815A>T
ENST00000508181.5:n.116A>T
NM_014639.3:c.2543A>T , LRG_173t1:c.2543A>T	NP_055454.1:p.His848Leu
XR_948312.1:n.2812A>T
XR_001742370.2:n.2815A>T
NM_014639.4:c.2543A>T MANE Select	NP_055454.1:p.His848Leu