Canonical Allele Identifier: CA360458100

Gene: SKIC3

Linked Data

• ClinVar Variation Id: 689649
• ClinVar RCV Id: RCV000850400 ; RCV002293494
• dbSNP Id: rs1347862457
• gnomAD v4: 5-95516693-C-A
• MyVariant Identifiers: chr5:g.94852397C>A (hg19) ; chr5:g.95516693C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516693C>A , CM000667.2:g.95516693C>A	GRCh38
NC_000005.9:g.94852397C>A , CM000667.1:g.94852397C>A	GRCh37
NC_000005.8:g.94878153C>A	NCBI36
NG_023414.1:g.43313G>T , LRG_173:g.43313G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.2949G>T
ENST00000513232.2:c.*1374G>T	ENSP00000422749.2:n.*1374G>T
ENST00000698450.1:n.1878G>T
ENST00000698451.1:n.2079G>T
ENST00000698452.1:n.3150G>T
ENST00000698453.1:c.2442-107G>T	ENSP00000513735.1:n.2442-107G>T
ENST00000698454.1:c.2485G>T	ENSP00000513736.1:p.Gly829Cys
ENST00000698455.1:c.*2635G>T	ENSP00000513737.1:n.*2635G>T
ENST00000698456.1:c.*1352G>T	ENSP00000513738.1:n.*1352G>T
ENST00000698457.1:c.2284G>T	ENSP00000513739.1:p.Gly762Cys
ENST00000698458.1:c.2478-107G>T	ENSP00000513740.1:n.2478-107G>T
ENST00000698459.1:c.2494G>T	ENSP00000513741.1:p.Gly832Cys
ENST00000698460.1:c.*279-107G>T	ENSP00000513742.1:n.*279-107G>T
ENST00000698461.1:n.2949G>T
ENST00000698462.1:n.2869G>T
ENST00000698468.1:n.3150G>T
ENST00000698469.1:c.*2006G>T	ENSP00000513743.1:n.*2006G>T
ENST00000698470.1:c.*501G>T	ENSP00000513744.1:n.*501G>T
ENST00000698471.1:n.2949G>T
ENST00000698472.1:c.*1374G>T	ENSP00000513745.1:n.*1374G>T
ENST00000698473.1:n.2949G>T
ENST00000698474.1:n.2949G>T
ENST00000698475.1:n.3034G>T
ENST00000698476.1:c.2494G>T	ENSP00000513746.1:p.Gly832Cys
ENST00000698477.1:c.2442-107G>T	ENSP00000513747.1:n.2442-107G>T
ENST00000698478.1:n.2949G>T
ENST00000698479.1:c.2494G>T	ENSP00000513748.1:p.Gly832Cys
ENST00000698480.1:c.2437-107G>T	ENSP00000513749.1:n.2437-107G>T
ENST00000698481.1:c.2437-107G>T	ENSP00000513750.1:n.2437-107G>T
ENST00000698482.1:n.2784G>T
ENST00000698483.1:n.2949G>T
ENST00000698484.1:c.2494G>T	ENSP00000513751.1:p.Gly832Cys
ENST00000698485.1:c.2437-107G>T	ENSP00000513752.1:n.2437-107G>T
ENST00000698486.1:n.2949G>T
ENST00000698487.1:c.2494G>T	ENSP00000513753.1:p.Gly832Cys
ENST00000698488.1:c.2260-107G>T	ENSP00000513754.1:n.2260-107G>T
ENST00000698489.1:n.6734G>T
ENST00000698490.1:c.2494G>T	ENSP00000513755.1:p.Gly832Cys
ENST00000698492.1:c.*1209G>T	ENSP00000513756.1:n.*1209G>T
ENST00000698493.1:n.2784G>T
ENST00000698494.1:c.*389G>T	ENSP00000513757.1:n.*389G>T
ENST00000358746.7:c.2494G>T MANE Select	ENSP00000351596.3:p.Gly832Cys
ENST00000649566.1:c.2494G>T	ENSP00000497948.1:p.Gly832Cys
ENST00000358746.6:c.2494G>T	ENSP00000351596.2:p.Gly832Cys
ENST00000506007.1:n.76G>T
ENST00000507805.5:n.681G>T
NM_014639.3:c.2494G>T , LRG_173t1:c.2494G>T	NP_055454.1:p.Gly832Cys
XR_948312.1:n.2763G>T
XR_001742370.2:n.2766G>T
NM_014639.4:c.2494G>T MANE Select	NP_055454.1:p.Gly832Cys