Canonical Allele Identifier: CA122852376

Gene: SKIC3

Linked Data

• dbSNP Id: rs1018610551
• gnomAD v4: 5-95516572-C-T
• MyVariant Identifiers: chr5:g.94852276C>T (hg19) ; chr5:g.95516572C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516572C>T , CM000667.2:g.95516572C>T	GRCh38
NC_000005.9:g.94852276C>T , CM000667.1:g.94852276C>T	GRCh37
NC_000005.8:g.94878032C>T	NCBI36
NG_023414.1:g.43434G>A , LRG_173:g.43434G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.3070G>A
ENST00000513232.2:c.*1495G>A	ENSP00000422749.2:n.*1495G>A
ENST00000698450.1:n.1914G>A
ENST00000698451.1:n.2200G>A
ENST00000698452.1:n.3271G>A
ENST00000698453.1:c.2456G>A	ENSP00000513735.1:p.Cys819Tyr
ENST00000698454.1:c.2521G>A	ENSP00000513736.1:p.Ala841Thr
ENST00000698455.1:c.*2756G>A	ENSP00000513737.1:n.*2756G>A
ENST00000698456.1:c.*1388G>A	ENSP00000513738.1:n.*1388G>A
ENST00000698457.1:c.2320G>A	ENSP00000513739.1:p.Ala774Thr
ENST00000698458.1:c.2492G>A	ENSP00000513740.1:p.Cys831Tyr
ENST00000698459.1:c.2530G>A	ENSP00000513741.1:p.Ala844Thr
ENST00000698460.1:c.*293G>A	ENSP00000513742.1:n.*293G>A
ENST00000698461.1:n.2985G>A
ENST00000698462.1:n.2905G>A
ENST00000698468.1:n.3271G>A
ENST00000698469.1:c.*2127G>A	ENSP00000513743.1:n.*2127G>A
ENST00000698470.1:c.*622G>A	ENSP00000513744.1:n.*622G>A
ENST00000698471.1:n.3070G>A
ENST00000698472.1:c.*1495G>A	ENSP00000513745.1:n.*1495G>A
ENST00000698473.1:n.3070G>A
ENST00000698474.1:n.3070G>A
ENST00000698475.1:n.3155G>A
ENST00000698476.1:c.2530G>A	ENSP00000513746.1:p.Ala844Thr
ENST00000698477.1:c.2456G>A	ENSP00000513747.1:p.Cys819Tyr
ENST00000698478.1:n.3070G>A
ENST00000698479.1:c.2530G>A	ENSP00000513748.1:p.Ala844Thr
ENST00000698480.1:c.2451G>A	ENSP00000513749.1:p.Met817Ile
ENST00000698481.1:c.2451G>A	ENSP00000513750.1:p.Met817Ile
ENST00000698482.1:n.2820G>A
ENST00000698483.1:n.2985G>A
ENST00000698484.1:c.2530G>A	ENSP00000513751.1:p.Ala844Thr
ENST00000698485.1:c.2451G>A	ENSP00000513752.1:p.Met817Ile
ENST00000698486.1:n.3070G>A
ENST00000698487.1:c.2530G>A	ENSP00000513753.1:p.Ala844Thr
ENST00000698488.1:c.2274G>A	ENSP00000513754.1:p.Met758Ile
ENST00000698489.1:n.6855G>A
ENST00000698490.1:c.2530G>A	ENSP00000513755.1:p.Ala844Thr
ENST00000698492.1:c.*1245G>A	ENSP00000513756.1:n.*1245G>A
ENST00000698493.1:n.2820G>A
ENST00000698494.1:c.*510G>A	ENSP00000513757.1:n.*510G>A
ENST00000358746.7:c.2530G>A MANE Select	ENSP00000351596.3:p.Ala844Thr
ENST00000649566.1:c.2530G>A	ENSP00000497948.1:p.Ala844Thr
ENST00000358746.6:c.2530G>A	ENSP00000351596.2:p.Ala844Thr
ENST00000506007.1:n.197G>A
ENST00000507805.5:n.802G>A
ENST00000508181.5:n.103G>A
NM_014639.3:c.2530G>A , LRG_173t1:c.2530G>A	NP_055454.1:p.Ala844Thr
XR_948312.1:n.2799G>A
XR_001742370.2:n.2802G>A
NM_014639.4:c.2530G>A MANE Select	NP_055454.1:p.Ala844Thr