Canonical Allele Identifier: CA3347051

Gene: SKIC3

Linked Data

• ClinVar Variation Id: 3015911
• ClinVar RCV Id: RCV003873998
• dbSNP Id: rs768376927
• ExAC: 5:94852262 G / A
• gnomAD v2: 5-94852262-G-A
• gnomAD v3: 5-95516558-G-A
• gnomAD v4: 5-95516558-G-A
• MyVariant Identifiers: chr5:g.94852262G>A (hg19) ; chr5:g.95516558G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516558G>A , CM000667.2:g.95516558G>A	GRCh38
NC_000005.9:g.94852262G>A , CM000667.1:g.94852262G>A	GRCh37
NC_000005.8:g.94878018G>A	NCBI36
NG_023414.1:g.43448C>T , LRG_173:g.43448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.3084C>T
ENST00000513232.2:c.*1509C>T	ENSP00000422749.2:n.*1509C>T
ENST00000698450.1:n.1928C>T
ENST00000698451.1:n.2214C>T
ENST00000698452.1:n.3285C>T
ENST00000698453.1:c.2470C>T	ENSP00000513735.1:p.Leu824=
ENST00000698454.1:c.2535C>T	ENSP00000513736.1:p.His845=
ENST00000698455.1:c.*2770C>T	ENSP00000513737.1:n.*2770C>T
ENST00000698456.1:c.*1402C>T	ENSP00000513738.1:n.*1402C>T
ENST00000698457.1:c.2334C>T	ENSP00000513739.1:p.His778=
ENST00000698458.1:c.2506C>T	ENSP00000513740.1:p.Leu836=
ENST00000698459.1:c.2544C>T	ENSP00000513741.1:p.His848=
ENST00000698460.1:c.*307C>T	ENSP00000513742.1:n.*307C>T
ENST00000698461.1:n.2999C>T
ENST00000698462.1:n.2919C>T
ENST00000698468.1:n.3285C>T
ENST00000698469.1:c.*2141C>T	ENSP00000513743.1:n.*2141C>T
ENST00000698470.1:c.*636C>T	ENSP00000513744.1:n.*636C>T
ENST00000698471.1:n.3084C>T
ENST00000698472.1:c.*1509C>T	ENSP00000513745.1:n.*1509C>T
ENST00000698473.1:n.3084C>T
ENST00000698474.1:n.3084C>T
ENST00000698475.1:n.3169C>T
ENST00000698476.1:c.2544C>T	ENSP00000513746.1:p.His848=
ENST00000698477.1:c.2470C>T	ENSP00000513747.1:p.Leu824=
ENST00000698478.1:n.3084C>T
ENST00000698479.1:c.2544C>T	ENSP00000513748.1:p.His848=
ENST00000698480.1:c.2465C>T	ENSP00000513749.1:p.Thr822Ile
ENST00000698481.1:c.2465C>T	ENSP00000513750.1:p.Thr822Ile
ENST00000698482.1:n.2834C>T
ENST00000698483.1:n.2999C>T
ENST00000698484.1:c.2544C>T	ENSP00000513751.1:p.His848=
ENST00000698485.1:c.2465C>T	ENSP00000513752.1:p.Thr822Ile
ENST00000698486.1:n.3084C>T
ENST00000698487.1:c.2544C>T	ENSP00000513753.1:p.His848=
ENST00000698488.1:c.2288C>T	ENSP00000513754.1:p.Thr763Ile
ENST00000698489.1:n.6869C>T
ENST00000698490.1:c.2544C>T	ENSP00000513755.1:p.His848=
ENST00000698492.1:c.*1259C>T	ENSP00000513756.1:n.*1259C>T
ENST00000698493.1:n.2834C>T
ENST00000698494.1:c.*524C>T	ENSP00000513757.1:n.*524C>T
ENST00000358746.7:c.2544C>T MANE Select	ENSP00000351596.3:p.His848=
ENST00000649566.1:c.2544C>T	ENSP00000497948.1:p.His848=
ENST00000358746.6:c.2544C>T	ENSP00000351596.2:p.His848=
ENST00000506007.1:n.211C>T
ENST00000507805.5:n.816C>T
ENST00000508181.5:n.117C>T
NM_014639.3:c.2544C>T , LRG_173t1:c.2544C>T	NP_055454.1:p.His848=
XR_948312.1:n.2813C>T
XR_001742370.2:n.2816C>T
NM_014639.4:c.2544C>T MANE Select	NP_055454.1:p.His848=