Canonical Allele Identifier: CA360458627

Gene: SKIC3

Linked Data

• ClinVar Variation Id: 1937737
• ClinVar RCV Id: RCV002642892
• MyVariant Identifiers: chr5:g.94852453C>T (hg19) ; chr5:g.95516749C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516749C>T , CM000667.2:g.95516749C>T	GRCh38
NC_000005.9:g.94852453C>T , CM000667.1:g.94852453C>T	GRCh37
NC_000005.8:g.94878209C>T	NCBI36
NG_023414.1:g.43257G>A , LRG_173:g.43257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.2893G>A
ENST00000513232.2:c.*1318G>A	ENSP00000422749.2:n.*1318G>A
ENST00000698450.1:n.1822G>A
ENST00000698451.1:n.2023G>A
ENST00000698452.1:n.3094G>A
ENST00000698453.1:c.2442-163G>A	ENSP00000513735.1:n.2442-163G>A
ENST00000698454.1:c.2429G>A	ENSP00000513736.1:p.Cys810Tyr
ENST00000698455.1:c.*2579G>A	ENSP00000513737.1:n.*2579G>A
ENST00000698456.1:c.*1296G>A	ENSP00000513738.1:n.*1296G>A
ENST00000698457.1:c.2228G>A	ENSP00000513739.1:p.Cys743Tyr
ENST00000698458.1:c.2478-163G>A	ENSP00000513740.1:n.2478-163G>A
ENST00000698459.1:c.2438G>A	ENSP00000513741.1:p.Cys813Tyr
ENST00000698460.1:c.*279-163G>A	ENSP00000513742.1:n.*279-163G>A
ENST00000698461.1:n.2893G>A
ENST00000698462.1:n.2813G>A
ENST00000698468.1:n.3094G>A
ENST00000698469.1:c.*1950G>A	ENSP00000513743.1:n.*1950G>A
ENST00000698470.1:c.*445G>A	ENSP00000513744.1:n.*445G>A
ENST00000698471.1:n.2893G>A
ENST00000698472.1:c.*1318G>A	ENSP00000513745.1:n.*1318G>A
ENST00000698473.1:n.2893G>A
ENST00000698474.1:n.2893G>A
ENST00000698475.1:n.2978G>A
ENST00000698476.1:c.2438G>A	ENSP00000513746.1:p.Cys813Tyr
ENST00000698477.1:c.2442-163G>A	ENSP00000513747.1:n.2442-163G>A
ENST00000698478.1:n.2893G>A
ENST00000698479.1:c.2438G>A	ENSP00000513748.1:p.Cys813Tyr
ENST00000698480.1:c.2437-163G>A	ENSP00000513749.1:n.2437-163G>A
ENST00000698481.1:c.2437-163G>A	ENSP00000513750.1:n.2437-163G>A
ENST00000698482.1:n.2728G>A
ENST00000698483.1:n.2893G>A
ENST00000698484.1:c.2438G>A	ENSP00000513751.1:p.Cys813Tyr
ENST00000698485.1:c.2437-163G>A	ENSP00000513752.1:n.2437-163G>A
ENST00000698486.1:n.2893G>A
ENST00000698487.1:c.2438G>A	ENSP00000513753.1:p.Cys813Tyr
ENST00000698488.1:c.2260-163G>A	ENSP00000513754.1:n.2260-163G>A
ENST00000698489.1:n.6678G>A
ENST00000698490.1:c.2438G>A	ENSP00000513755.1:p.Cys813Tyr
ENST00000698492.1:c.*1153G>A	ENSP00000513756.1:n.*1153G>A
ENST00000698493.1:n.2728G>A
ENST00000698494.1:c.*333G>A	ENSP00000513757.1:n.*333G>A
ENST00000358746.7:c.2438G>A MANE Select	ENSP00000351596.3:p.Cys813Tyr
ENST00000649566.1:c.2438G>A	ENSP00000497948.1:p.Cys813Tyr
ENST00000358746.6:c.2438G>A	ENSP00000351596.2:p.Cys813Tyr
ENST00000506007.1:n.20G>A
ENST00000507805.5:n.625G>A
NM_014639.3:c.2438G>A , LRG_173t1:c.2438G>A	NP_055454.1:p.Cys813Tyr
XR_948312.1:n.2707G>A
XR_001742370.2:n.2710G>A
NM_014639.4:c.2438G>A MANE Select	NP_055454.1:p.Cys813Tyr