Canonical Allele Identifier: CA360457879

Gene: SKIC3

Linked Data

• ClinVar Variation Id: 1023595
• ClinVar RCV Id: RCV001323665
• dbSNP Id: rs1747311552
• gnomAD v4: 5-95516578-T-C
• MyVariant Identifiers: chr5:g.94852282T>C (hg19) ; chr5:g.95516578T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516578T>C , CM000667.2:g.95516578T>C	GRCh38
NC_000005.9:g.94852282T>C , CM000667.1:g.94852282T>C	GRCh37
NC_000005.8:g.94878038T>C	NCBI36
NG_023414.1:g.43428A>G , LRG_173:g.43428A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.3064A>G
ENST00000513232.2:c.*1489A>G	ENSP00000422749.2:n.*1489A>G
ENST00000698450.1:n.1908A>G
ENST00000698451.1:n.2194A>G
ENST00000698452.1:n.3265A>G
ENST00000698453.1:c.2450A>G	ENSP00000513735.1:p.Lys817Arg
ENST00000698454.1:c.2515A>G	ENSP00000513736.1:p.Asn839Asp
ENST00000698455.1:c.*2750A>G	ENSP00000513737.1:n.*2750A>G
ENST00000698456.1:c.*1382A>G	ENSP00000513738.1:n.*1382A>G
ENST00000698457.1:c.2314A>G	ENSP00000513739.1:p.Asn772Asp
ENST00000698458.1:c.2486A>G	ENSP00000513740.1:p.Lys829Arg
ENST00000698459.1:c.2524A>G	ENSP00000513741.1:p.Asn842Asp
ENST00000698460.1:c.*287A>G	ENSP00000513742.1:n.*287A>G
ENST00000698461.1:n.2979A>G
ENST00000698462.1:n.2899A>G
ENST00000698468.1:n.3265A>G
ENST00000698469.1:c.*2121A>G	ENSP00000513743.1:n.*2121A>G
ENST00000698470.1:c.*616A>G	ENSP00000513744.1:n.*616A>G
ENST00000698471.1:n.3064A>G
ENST00000698472.1:c.*1489A>G	ENSP00000513745.1:n.*1489A>G
ENST00000698473.1:n.3064A>G
ENST00000698474.1:n.3064A>G
ENST00000698475.1:n.3149A>G
ENST00000698476.1:c.2524A>G	ENSP00000513746.1:p.Asn842Asp
ENST00000698477.1:c.2450A>G	ENSP00000513747.1:p.Lys817Arg
ENST00000698478.1:n.3064A>G
ENST00000698479.1:c.2524A>G	ENSP00000513748.1:p.Asn842Asp
ENST00000698480.1:c.2445A>G	ENSP00000513749.1:p.Glu815=
ENST00000698481.1:c.2445A>G	ENSP00000513750.1:p.Glu815=
ENST00000698482.1:n.2814A>G
ENST00000698483.1:n.2979A>G
ENST00000698484.1:c.2524A>G	ENSP00000513751.1:p.Asn842Asp
ENST00000698485.1:c.2445A>G	ENSP00000513752.1:p.Glu815=
ENST00000698486.1:n.3064A>G
ENST00000698487.1:c.2524A>G	ENSP00000513753.1:p.Asn842Asp
ENST00000698488.1:c.2268A>G	ENSP00000513754.1:p.Glu756=
ENST00000698489.1:n.6849A>G
ENST00000698490.1:c.2524A>G	ENSP00000513755.1:p.Asn842Asp
ENST00000698492.1:c.*1239A>G	ENSP00000513756.1:n.*1239A>G
ENST00000698493.1:n.2814A>G
ENST00000698494.1:c.*504A>G	ENSP00000513757.1:n.*504A>G
ENST00000358746.7:c.2524A>G MANE Select	ENSP00000351596.3:p.Asn842Asp
ENST00000649566.1:c.2524A>G	ENSP00000497948.1:p.Asn842Asp
ENST00000358746.6:c.2524A>G	ENSP00000351596.2:p.Asn842Asp
ENST00000506007.1:n.191A>G
ENST00000507805.5:n.796A>G
ENST00000508181.5:n.97A>G
NM_014639.3:c.2524A>G , LRG_173t1:c.2524A>G	NP_055454.1:p.Asn842Asp
XR_948312.1:n.2793A>G
XR_001742370.2:n.2796A>G
NM_014639.4:c.2524A>G MANE Select	NP_055454.1:p.Asn842Asp