Canonical Allele Identifier: CA122852674
Gene: SKIC3 HGNC NCBI

Linked Data

dbSNP Id: rs1038612107
gnomAD v3: 5-95516819-G-T
gnomAD v4: 5-95516819-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.95516819G>T , CM000667.2:g.95516819G>T GRCh38
NC_000005.9:g.94852523G>T , CM000667.1:g.94852523G>T GRCh37
NC_000005.8:g.94878279G>T NCBI36
NG_023414.1:g.43187C>A , LRG_173:g.43187C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000506007.2:n.2823C>A
ENST00000513232.2:c.*1248C>A ENSP00000422749.2:n.*1248C>A
ENST00000698450.1:n.1821-69C>A
ENST00000698451.1:n.1953C>A
ENST00000698452.1:n.3024C>A
ENST00000698453.1:c.2441+92C>A ENSP00000513735.1:n.2441+92C>A
ENST00000698454.1:c.2428-69C>A ENSP00000513736.1:n.2428-69C>A
ENST00000698455.1:c.*2509C>A ENSP00000513737.1:n.*2509C>A
ENST00000698456.1:c.*1295-69C>A ENSP00000513738.1:n.*1295-69C>A
ENST00000698457.1:c.2227-69C>A ENSP00000513739.1:n.2227-69C>A
ENST00000698458.1:c.2477+92C>A ENSP00000513740.1:n.2477+92C>A
ENST00000698459.1:c.2437-69C>A ENSP00000513741.1:n.2437-69C>A
ENST00000698460.1:c.*278+97C>A ENSP00000513742.1:n.*278+97C>A
ENST00000698461.1:n.2823C>A
ENST00000698462.1:n.2812-69C>A
ENST00000698468.1:n.3024C>A
ENST00000698469.1:c.*1880C>A ENSP00000513743.1:n.*1880C>A
ENST00000698470.1:c.*375C>A ENSP00000513744.1:n.*375C>A
ENST00000698471.1:n.2823C>A
ENST00000698472.1:c.*1248C>A ENSP00000513745.1:n.*1248C>A
ENST00000698473.1:n.2823C>A
ENST00000698474.1:n.2823C>A
ENST00000698475.1:n.2908C>A
ENST00000698476.1:c.2437-69C>A ENSP00000513746.1:n.2437-69C>A
ENST00000698477.1:c.2441+92C>A ENSP00000513747.1:n.2441+92C>A
ENST00000698478.1:n.2823C>A
ENST00000698479.1:c.2437-69C>A ENSP00000513748.1:n.2437-69C>A
ENST00000698480.1:c.2436+97C>A ENSP00000513749.1:n.2436+97C>A
ENST00000698481.1:c.2436+97C>A ENSP00000513750.1:n.2436+97C>A
ENST00000698482.1:n.2727-69C>A
ENST00000698483.1:n.2823C>A
ENST00000698484.1:c.2437-69C>A ENSP00000513751.1:n.2437-69C>A
ENST00000698485.1:c.2436+97C>A ENSP00000513752.1:n.2436+97C>A
ENST00000698486.1:n.2823C>A
ENST00000698487.1:c.2437-69C>A ENSP00000513753.1:n.2437-69C>A
ENST00000698488.1:c.2259+97C>A ENSP00000513754.1:n.2259+97C>A
ENST00000698489.1:n.6608C>A
ENST00000698490.1:c.2437-69C>A ENSP00000513755.1:n.2437-69C>A
ENST00000698492.1:c.*1152-69C>A ENSP00000513756.1:n.*1152-69C>A
ENST00000698493.1:n.2727-69C>A
ENST00000698494.1:c.*263C>A ENSP00000513757.1:n.*263C>A
ENST00000358746.7:c.2437-69C>A MANE Select ENSP00000351596.3:n.2437-69C>A
ENST00000649566.1:c.2437-69C>A ENSP00000497948.1:n.2437-69C>A
ENST00000358746.6:c.2437-69C>A ENSP00000351596.2:n.2437-69C>A
ENST00000507805.5:n.555C>A
NM_014639.3:c.2437-69C>A , LRG_173t1:c.2437-69C>A NP_055454.1:n.2437-69C>A
XR_948312.1:n.2706-69C>A
XR_001742370.2:n.2709-69C>A
NM_014639.4:c.2437-69C>A MANE Select NP_055454.1:n.2437-69C>A