Canonical Allele Identifier: CA360458115

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852399A>G (hg19) ; chr5:g.95516695A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516695A>G , CM000667.2:g.95516695A>G	GRCh38
NC_000005.9:g.94852399A>G , CM000667.1:g.94852399A>G	GRCh37
NC_000005.8:g.94878155A>G	NCBI36
NG_023414.1:g.43311T>C , LRG_173:g.43311T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.2947T>C
ENST00000513232.2:c.*1372T>C	ENSP00000422749.2:n.*1372T>C
ENST00000698450.1:n.1876T>C
ENST00000698451.1:n.2077T>C
ENST00000698452.1:n.3148T>C
ENST00000698453.1:c.2442-109T>C	ENSP00000513735.1:n.2442-109T>C
ENST00000698454.1:c.2483T>C	ENSP00000513736.1:p.Leu828Pro
ENST00000698455.1:c.*2633T>C	ENSP00000513737.1:n.*2633T>C
ENST00000698456.1:c.*1350T>C	ENSP00000513738.1:n.*1350T>C
ENST00000698457.1:c.2282T>C	ENSP00000513739.1:p.Leu761Pro
ENST00000698458.1:c.2478-109T>C	ENSP00000513740.1:n.2478-109T>C
ENST00000698459.1:c.2492T>C	ENSP00000513741.1:p.Leu831Pro
ENST00000698460.1:c.*279-109T>C	ENSP00000513742.1:n.*279-109T>C
ENST00000698461.1:n.2947T>C
ENST00000698462.1:n.2867T>C
ENST00000698468.1:n.3148T>C
ENST00000698469.1:c.*2004T>C	ENSP00000513743.1:n.*2004T>C
ENST00000698470.1:c.*499T>C	ENSP00000513744.1:n.*499T>C
ENST00000698471.1:n.2947T>C
ENST00000698472.1:c.*1372T>C	ENSP00000513745.1:n.*1372T>C
ENST00000698473.1:n.2947T>C
ENST00000698474.1:n.2947T>C
ENST00000698475.1:n.3032T>C
ENST00000698476.1:c.2492T>C	ENSP00000513746.1:p.Leu831Pro
ENST00000698477.1:c.2442-109T>C	ENSP00000513747.1:n.2442-109T>C
ENST00000698478.1:n.2947T>C
ENST00000698479.1:c.2492T>C	ENSP00000513748.1:p.Leu831Pro
ENST00000698480.1:c.2437-109T>C	ENSP00000513749.1:n.2437-109T>C
ENST00000698481.1:c.2437-109T>C	ENSP00000513750.1:n.2437-109T>C
ENST00000698482.1:n.2782T>C
ENST00000698483.1:n.2947T>C
ENST00000698484.1:c.2492T>C	ENSP00000513751.1:p.Leu831Pro
ENST00000698485.1:c.2437-109T>C	ENSP00000513752.1:n.2437-109T>C
ENST00000698486.1:n.2947T>C
ENST00000698487.1:c.2492T>C	ENSP00000513753.1:p.Leu831Pro
ENST00000698488.1:c.2260-109T>C	ENSP00000513754.1:n.2260-109T>C
ENST00000698489.1:n.6732T>C
ENST00000698490.1:c.2492T>C	ENSP00000513755.1:p.Leu831Pro
ENST00000698492.1:c.*1207T>C	ENSP00000513756.1:n.*1207T>C
ENST00000698493.1:n.2782T>C
ENST00000698494.1:c.*387T>C	ENSP00000513757.1:n.*387T>C
ENST00000358746.7:c.2492T>C MANE Select	ENSP00000351596.3:p.Leu831Pro
ENST00000649566.1:c.2492T>C	ENSP00000497948.1:p.Leu831Pro
ENST00000358746.6:c.2492T>C	ENSP00000351596.2:p.Leu831Pro
ENST00000506007.1:n.74T>C
ENST00000507805.5:n.679T>C
NM_014639.3:c.2492T>C , LRG_173t1:c.2492T>C	NP_055454.1:p.Leu831Pro
XR_948312.1:n.2761T>C
XR_001742370.2:n.2764T>C
NM_014639.4:c.2492T>C MANE Select	NP_055454.1:p.Leu831Pro