Canonical Allele Identifier: CA2674636468
Gene: SKIC3 HGNC NCBI

Linked Data

gnomAD v4: 5-95516764-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.95516764A>T , CM000667.2:g.95516764A>T GRCh38
NC_000005.9:g.94852468A>T , CM000667.1:g.94852468A>T GRCh37
NC_000005.8:g.94878224A>T NCBI36
NG_023414.1:g.43242T>A , LRG_173:g.43242T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000506007.2:n.2878T>A
ENST00000513232.2:c.*1303T>A ENSP00000422749.2:n.*1303T>A
ENST00000698450.1:n.1821-14T>A
ENST00000698451.1:n.2008T>A
ENST00000698452.1:n.3079T>A
ENST00000698453.1:c.2441+147T>A ENSP00000513735.1:n.2441+147T>A
ENST00000698454.1:c.2428-14T>A ENSP00000513736.1:n.2428-14T>A
ENST00000698455.1:c.*2564T>A ENSP00000513737.1:n.*2564T>A
ENST00000698456.1:c.*1295-14T>A ENSP00000513738.1:n.*1295-14T>A
ENST00000698457.1:c.2227-14T>A ENSP00000513739.1:n.2227-14T>A
ENST00000698458.1:c.2477+147T>A ENSP00000513740.1:n.2477+147T>A
ENST00000698459.1:c.2437-14T>A ENSP00000513741.1:n.2437-14T>A
ENST00000698460.1:c.*278+152T>A ENSP00000513742.1:n.*278+152T>A
ENST00000698461.1:n.2878T>A
ENST00000698462.1:n.2812-14T>A
ENST00000698468.1:n.3079T>A
ENST00000698469.1:c.*1935T>A ENSP00000513743.1:n.*1935T>A
ENST00000698470.1:c.*430T>A ENSP00000513744.1:n.*430T>A
ENST00000698471.1:n.2878T>A
ENST00000698472.1:c.*1303T>A ENSP00000513745.1:n.*1303T>A
ENST00000698473.1:n.2878T>A
ENST00000698474.1:n.2878T>A
ENST00000698475.1:n.2963T>A
ENST00000698476.1:c.2437-14T>A ENSP00000513746.1:n.2437-14T>A
ENST00000698477.1:c.2441+147T>A ENSP00000513747.1:n.2441+147T>A
ENST00000698478.1:n.2878T>A
ENST00000698479.1:c.2437-14T>A ENSP00000513748.1:n.2437-14T>A
ENST00000698480.1:c.2436+152T>A ENSP00000513749.1:n.2436+152T>A
ENST00000698481.1:c.2436+152T>A ENSP00000513750.1:n.2436+152T>A
ENST00000698482.1:n.2727-14T>A
ENST00000698483.1:n.2878T>A
ENST00000698484.1:c.2437-14T>A ENSP00000513751.1:n.2437-14T>A
ENST00000698485.1:c.2436+152T>A ENSP00000513752.1:n.2436+152T>A
ENST00000698486.1:n.2878T>A
ENST00000698487.1:c.2437-14T>A ENSP00000513753.1:n.2437-14T>A
ENST00000698488.1:c.2259+152T>A ENSP00000513754.1:n.2259+152T>A
ENST00000698489.1:n.6663T>A
ENST00000698490.1:c.2437-14T>A ENSP00000513755.1:n.2437-14T>A
ENST00000698492.1:c.*1152-14T>A ENSP00000513756.1:n.*1152-14T>A
ENST00000698493.1:n.2727-14T>A
ENST00000698494.1:c.*318T>A ENSP00000513757.1:n.*318T>A
ENST00000358746.7:c.2437-14T>A MANE Select ENSP00000351596.3:n.2437-14T>A
ENST00000649566.1:c.2437-14T>A ENSP00000497948.1:n.2437-14T>A
ENST00000358746.6:c.2437-14T>A ENSP00000351596.2:n.2437-14T>A
ENST00000506007.1:n.5T>A
ENST00000507805.5:n.610T>A
NM_014639.3:c.2437-14T>A , LRG_173t1:c.2437-14T>A NP_055454.1:n.2437-14T>A
XR_948312.1:n.2706-14T>A
XR_001742370.2:n.2709-14T>A
NM_014639.4:c.2437-14T>A MANE Select NP_055454.1:n.2437-14T>A