Canonical Allele Identifier: CA360458128

Gene: SKIC3

Linked Data

• ClinVar Variation Id: 1388290
• ClinVar RCV Id: RCV001884486
• dbSNP Id: rs2112318670
• MyVariant Identifiers: chr5:g.94852402G>A (hg19) ; chr5:g.95516698G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516698G>A , CM000667.2:g.95516698G>A	GRCh38
NC_000005.9:g.94852402G>A , CM000667.1:g.94852402G>A	GRCh37
NC_000005.8:g.94878158G>A	NCBI36
NG_023414.1:g.43308C>T , LRG_173:g.43308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.2944C>T
ENST00000513232.2:c.*1369C>T	ENSP00000422749.2:n.*1369C>T
ENST00000698450.1:n.1873C>T
ENST00000698451.1:n.2074C>T
ENST00000698452.1:n.3145C>T
ENST00000698453.1:c.2442-112C>T	ENSP00000513735.1:n.2442-112C>T
ENST00000698454.1:c.2480C>T	ENSP00000513736.1:p.Ala827Val
ENST00000698455.1:c.*2630C>T	ENSP00000513737.1:n.*2630C>T
ENST00000698456.1:c.*1347C>T	ENSP00000513738.1:n.*1347C>T
ENST00000698457.1:c.2279C>T	ENSP00000513739.1:p.Ala760Val
ENST00000698458.1:c.2478-112C>T	ENSP00000513740.1:n.2478-112C>T
ENST00000698459.1:c.2489C>T	ENSP00000513741.1:p.Ala830Val
ENST00000698460.1:c.*279-112C>T	ENSP00000513742.1:n.*279-112C>T
ENST00000698461.1:n.2944C>T
ENST00000698462.1:n.2864C>T
ENST00000698468.1:n.3145C>T
ENST00000698469.1:c.*2001C>T	ENSP00000513743.1:n.*2001C>T
ENST00000698470.1:c.*496C>T	ENSP00000513744.1:n.*496C>T
ENST00000698471.1:n.2944C>T
ENST00000698472.1:c.*1369C>T	ENSP00000513745.1:n.*1369C>T
ENST00000698473.1:n.2944C>T
ENST00000698474.1:n.2944C>T
ENST00000698475.1:n.3029C>T
ENST00000698476.1:c.2489C>T	ENSP00000513746.1:p.Ala830Val
ENST00000698477.1:c.2442-112C>T	ENSP00000513747.1:n.2442-112C>T
ENST00000698478.1:n.2944C>T
ENST00000698479.1:c.2489C>T	ENSP00000513748.1:p.Ala830Val
ENST00000698480.1:c.2437-112C>T	ENSP00000513749.1:n.2437-112C>T
ENST00000698481.1:c.2437-112C>T	ENSP00000513750.1:n.2437-112C>T
ENST00000698482.1:n.2779C>T
ENST00000698483.1:n.2944C>T
ENST00000698484.1:c.2489C>T	ENSP00000513751.1:p.Ala830Val
ENST00000698485.1:c.2437-112C>T	ENSP00000513752.1:n.2437-112C>T
ENST00000698486.1:n.2944C>T
ENST00000698487.1:c.2489C>T	ENSP00000513753.1:p.Ala830Val
ENST00000698488.1:c.2260-112C>T	ENSP00000513754.1:n.2260-112C>T
ENST00000698489.1:n.6729C>T
ENST00000698490.1:c.2489C>T	ENSP00000513755.1:p.Ala830Val
ENST00000698492.1:c.*1204C>T	ENSP00000513756.1:n.*1204C>T
ENST00000698493.1:n.2779C>T
ENST00000698494.1:c.*384C>T	ENSP00000513757.1:n.*384C>T
ENST00000358746.7:c.2489C>T MANE Select	ENSP00000351596.3:p.Ala830Val
ENST00000649566.1:c.2489C>T	ENSP00000497948.1:p.Ala830Val
ENST00000358746.6:c.2489C>T	ENSP00000351596.2:p.Ala830Val
ENST00000506007.1:n.71C>T
ENST00000507805.5:n.676C>T
NM_014639.3:c.2489C>T , LRG_173t1:c.2489C>T	NP_055454.1:p.Ala830Val
XR_948312.1:n.2758C>T
XR_001742370.2:n.2761C>T
NM_014639.4:c.2489C>T MANE Select	NP_055454.1:p.Ala830Val