Canonical Allele Identifier: CA360457691

Gene: SKIC3

Linked Data

• dbSNP Id: rs1282592222
• gnomAD v2: 5-94852239-G-C
• gnomAD v4: 5-95516535-G-C
• MyVariant Identifiers: chr5:g.94852239G>C (hg19) ; chr5:g.95516535G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516535G>C , CM000667.2:g.95516535G>C	GRCh38
NC_000005.9:g.94852239G>C , CM000667.1:g.94852239G>C	GRCh37
NC_000005.8:g.94877995G>C	NCBI36
NG_023414.1:g.43471C>G , LRG_173:g.43471C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.3107C>G
ENST00000513232.2:c.*1532C>G	ENSP00000422749.2:n.*1532C>G
ENST00000698450.1:n.1951C>G
ENST00000698451.1:n.2237C>G
ENST00000698452.1:n.3308C>G
ENST00000698453.1:c.2493C>G	ENSP00000513735.1:p.Val831=
ENST00000698454.1:c.2558C>G	ENSP00000513736.1:p.Ser853Ter
ENST00000698455.1:c.*2793C>G	ENSP00000513737.1:n.*2793C>G
ENST00000698456.1:c.*1425C>G	ENSP00000513738.1:n.*1425C>G
ENST00000698457.1:c.2357C>G	ENSP00000513739.1:p.Ser786Ter
ENST00000698458.1:c.2529C>G	ENSP00000513740.1:p.Val843=
ENST00000698459.1:c.2567C>G	ENSP00000513741.1:p.Ser856Ter
ENST00000698460.1:c.*330C>G	ENSP00000513742.1:n.*330C>G
ENST00000698461.1:n.3022C>G
ENST00000698462.1:n.2942C>G
ENST00000698468.1:n.3308C>G
ENST00000698469.1:c.*2164C>G	ENSP00000513743.1:n.*2164C>G
ENST00000698470.1:c.*659C>G	ENSP00000513744.1:n.*659C>G
ENST00000698471.1:n.3107C>G
ENST00000698472.1:c.*1532C>G	ENSP00000513745.1:n.*1532C>G
ENST00000698473.1:n.3107C>G
ENST00000698474.1:n.3107C>G
ENST00000698475.1:n.3192C>G
ENST00000698476.1:c.2567C>G	ENSP00000513746.1:p.Ser856Ter
ENST00000698477.1:c.2493C>G	ENSP00000513747.1:p.Val831=
ENST00000698478.1:n.3107C>G
ENST00000698479.1:c.2567C>G	ENSP00000513748.1:p.Ser856Ter
ENST00000698480.1:c.2488C>G	ENSP00000513749.1:p.Gln830Glu
ENST00000698481.1:c.2488C>G	ENSP00000513750.1:p.Gln830Glu
ENST00000698482.1:n.2857C>G
ENST00000698483.1:n.3022C>G
ENST00000698484.1:c.2567C>G	ENSP00000513751.1:p.Ser856Ter
ENST00000698485.1:c.2488C>G	ENSP00000513752.1:p.Gln830Glu
ENST00000698486.1:n.3107C>G
ENST00000698487.1:c.2567C>G	ENSP00000513753.1:p.Ser856Ter
ENST00000698488.1:c.2311C>G	ENSP00000513754.1:p.Gln771Glu
ENST00000698489.1:n.6892C>G
ENST00000698490.1:c.2567C>G	ENSP00000513755.1:p.Ser856Ter
ENST00000698492.1:c.*1282C>G	ENSP00000513756.1:n.*1282C>G
ENST00000698493.1:n.2857C>G
ENST00000698494.1:c.*547C>G	ENSP00000513757.1:n.*547C>G
ENST00000358746.7:c.2567C>G MANE Select	ENSP00000351596.3:p.Ser856Ter
ENST00000649566.1:c.2567C>G	ENSP00000497948.1:p.Ser856Ter
ENST00000358746.6:c.2567C>G	ENSP00000351596.2:p.Ser856Ter
ENST00000506007.1:n.234C>G
ENST00000507805.5:n.839C>G
ENST00000508181.5:n.140C>G
NM_014639.3:c.2567C>G , LRG_173t1:c.2567C>G	NP_055454.1:p.Ser856Ter
XR_948312.1:n.2836C>G
XR_001742370.2:n.2839C>G
NM_014639.4:c.2567C>G MANE Select	NP_055454.1:p.Ser856Ter