Canonical Allele Identifier: CA360457897

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852287A>G (hg19) ; chr5:g.95516583A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516583A>G , CM000667.2:g.95516583A>G	GRCh38
NC_000005.9:g.94852287A>G , CM000667.1:g.94852287A>G	GRCh37
NC_000005.8:g.94878043A>G	NCBI36
NG_023414.1:g.43423T>C , LRG_173:g.43423T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.3059T>C
ENST00000513232.2:c.*1484T>C	ENSP00000422749.2:n.*1484T>C
ENST00000698450.1:n.1903T>C
ENST00000698451.1:n.2189T>C
ENST00000698452.1:n.3260T>C
ENST00000698453.1:c.2445T>C	ENSP00000513735.1:p.Tyr815=
ENST00000698454.1:c.2510T>C	ENSP00000513736.1:p.Ile837Thr
ENST00000698455.1:c.*2745T>C	ENSP00000513737.1:n.*2745T>C
ENST00000698456.1:c.*1377T>C	ENSP00000513738.1:n.*1377T>C
ENST00000698457.1:c.2309T>C	ENSP00000513739.1:p.Ile770Thr
ENST00000698458.1:c.2481T>C	ENSP00000513740.1:p.Tyr827=
ENST00000698459.1:c.2519T>C	ENSP00000513741.1:p.Ile840Thr
ENST00000698460.1:c.*282T>C	ENSP00000513742.1:n.*282T>C
ENST00000698461.1:n.2974T>C
ENST00000698462.1:n.2894T>C
ENST00000698468.1:n.3260T>C
ENST00000698469.1:c.*2116T>C	ENSP00000513743.1:n.*2116T>C
ENST00000698470.1:c.*611T>C	ENSP00000513744.1:n.*611T>C
ENST00000698471.1:n.3059T>C
ENST00000698472.1:c.*1484T>C	ENSP00000513745.1:n.*1484T>C
ENST00000698473.1:n.3059T>C
ENST00000698474.1:n.3059T>C
ENST00000698475.1:n.3144T>C
ENST00000698476.1:c.2519T>C	ENSP00000513746.1:p.Ile840Thr
ENST00000698477.1:c.2445T>C	ENSP00000513747.1:p.Tyr815=
ENST00000698478.1:n.3059T>C
ENST00000698479.1:c.2519T>C	ENSP00000513748.1:p.Ile840Thr
ENST00000698480.1:c.2440T>C	ENSP00000513749.1:p.Leu814=
ENST00000698481.1:c.2440T>C	ENSP00000513750.1:p.Leu814=
ENST00000698482.1:n.2809T>C
ENST00000698483.1:n.2974T>C
ENST00000698484.1:c.2519T>C	ENSP00000513751.1:p.Ile840Thr
ENST00000698485.1:c.2440T>C	ENSP00000513752.1:p.Leu814=
ENST00000698486.1:n.3059T>C
ENST00000698487.1:c.2519T>C	ENSP00000513753.1:p.Ile840Thr
ENST00000698488.1:c.2263T>C	ENSP00000513754.1:p.Leu755=
ENST00000698489.1:n.6844T>C
ENST00000698490.1:c.2519T>C	ENSP00000513755.1:p.Ile840Thr
ENST00000698492.1:c.*1234T>C	ENSP00000513756.1:n.*1234T>C
ENST00000698493.1:n.2809T>C
ENST00000698494.1:c.*499T>C	ENSP00000513757.1:n.*499T>C
ENST00000358746.7:c.2519T>C MANE Select	ENSP00000351596.3:p.Ile840Thr
ENST00000649566.1:c.2519T>C	ENSP00000497948.1:p.Ile840Thr
ENST00000358746.6:c.2519T>C	ENSP00000351596.2:p.Ile840Thr
ENST00000506007.1:n.186T>C
ENST00000507805.5:n.791T>C
ENST00000508181.5:n.92T>C
NM_014639.3:c.2519T>C , LRG_173t1:c.2519T>C	NP_055454.1:p.Ile840Thr
XR_948312.1:n.2788T>C
XR_001742370.2:n.2791T>C
NM_014639.4:c.2519T>C MANE Select	NP_055454.1:p.Ile840Thr