Canonical Allele Identifier: CA360458595

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852448T>G (hg19) ; chr5:g.95516744T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516744T>G , CM000667.2:g.95516744T>G	GRCh38
NC_000005.9:g.94852448T>G , CM000667.1:g.94852448T>G	GRCh37
NC_000005.8:g.94878204T>G	NCBI36
NG_023414.1:g.43262A>C , LRG_173:g.43262A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.2898A>C
ENST00000513232.2:c.*1323A>C	ENSP00000422749.2:n.*1323A>C
ENST00000698450.1:n.1827A>C
ENST00000698451.1:n.2028A>C
ENST00000698452.1:n.3099A>C
ENST00000698453.1:c.2442-158A>C	ENSP00000513735.1:n.2442-158A>C
ENST00000698454.1:c.2434A>C	ENSP00000513736.1:p.Lys812Gln
ENST00000698455.1:c.*2584A>C	ENSP00000513737.1:n.*2584A>C
ENST00000698456.1:c.*1301A>C	ENSP00000513738.1:n.*1301A>C
ENST00000698457.1:c.2233A>C	ENSP00000513739.1:p.Lys745Gln
ENST00000698458.1:c.2478-158A>C	ENSP00000513740.1:n.2478-158A>C
ENST00000698459.1:c.2443A>C	ENSP00000513741.1:p.Lys815Gln
ENST00000698460.1:c.*279-158A>C	ENSP00000513742.1:n.*279-158A>C
ENST00000698461.1:n.2898A>C
ENST00000698462.1:n.2818A>C
ENST00000698468.1:n.3099A>C
ENST00000698469.1:c.*1955A>C	ENSP00000513743.1:n.*1955A>C
ENST00000698470.1:c.*450A>C	ENSP00000513744.1:n.*450A>C
ENST00000698471.1:n.2898A>C
ENST00000698472.1:c.*1323A>C	ENSP00000513745.1:n.*1323A>C
ENST00000698473.1:n.2898A>C
ENST00000698474.1:n.2898A>C
ENST00000698475.1:n.2983A>C
ENST00000698476.1:c.2443A>C	ENSP00000513746.1:p.Lys815Gln
ENST00000698477.1:c.2442-158A>C	ENSP00000513747.1:n.2442-158A>C
ENST00000698478.1:n.2898A>C
ENST00000698479.1:c.2443A>C	ENSP00000513748.1:p.Lys815Gln
ENST00000698480.1:c.2437-158A>C	ENSP00000513749.1:n.2437-158A>C
ENST00000698481.1:c.2437-158A>C	ENSP00000513750.1:n.2437-158A>C
ENST00000698482.1:n.2733A>C
ENST00000698483.1:n.2898A>C
ENST00000698484.1:c.2443A>C	ENSP00000513751.1:p.Lys815Gln
ENST00000698485.1:c.2437-158A>C	ENSP00000513752.1:n.2437-158A>C
ENST00000698486.1:n.2898A>C
ENST00000698487.1:c.2443A>C	ENSP00000513753.1:p.Lys815Gln
ENST00000698488.1:c.2260-158A>C	ENSP00000513754.1:n.2260-158A>C
ENST00000698489.1:n.6683A>C
ENST00000698490.1:c.2443A>C	ENSP00000513755.1:p.Lys815Gln
ENST00000698492.1:c.*1158A>C	ENSP00000513756.1:n.*1158A>C
ENST00000698493.1:n.2733A>C
ENST00000698494.1:c.*338A>C	ENSP00000513757.1:n.*338A>C
ENST00000358746.7:c.2443A>C MANE Select	ENSP00000351596.3:p.Lys815Gln
ENST00000649566.1:c.2443A>C	ENSP00000497948.1:p.Lys815Gln
ENST00000358746.6:c.2443A>C	ENSP00000351596.2:p.Lys815Gln
ENST00000506007.1:n.25A>C
ENST00000507805.5:n.630A>C
NM_014639.3:c.2443A>C , LRG_173t1:c.2443A>C	NP_055454.1:p.Lys815Gln
XR_948312.1:n.2712A>C
XR_001742370.2:n.2715A>C
NM_014639.4:c.2443A>C MANE Select	NP_055454.1:p.Lys815Gln