Canonical Allele Identifier: CA445717342
Gene: SKIC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.94852440T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.95516736T>A , CM000667.2:g.95516736T>A GRCh38
NC_000005.9:g.94852440T>A , CM000667.1:g.94852440T>A GRCh37
NC_000005.8:g.94878196T>A NCBI36
NG_023414.1:g.43270A>T , LRG_173:g.43270A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000506007.2:n.2906A>T
ENST00000513232.2:c.*1331A>T ENSP00000422749.2:n.*1331A>T
ENST00000698450.1:n.1835A>T
ENST00000698451.1:n.2036A>T
ENST00000698452.1:n.3107A>T
ENST00000698453.1:c.2442-150A>T ENSP00000513735.1:n.2442-150A>T
ENST00000698454.1:c.2442A>T ENSP00000513736.1:p.Ala814=
ENST00000698455.1:c.*2592A>T ENSP00000513737.1:n.*2592A>T
ENST00000698456.1:c.*1309A>T ENSP00000513738.1:n.*1309A>T
ENST00000698457.1:c.2241A>T ENSP00000513739.1:p.Ala747=
ENST00000698458.1:c.2478-150A>T ENSP00000513740.1:n.2478-150A>T
ENST00000698459.1:c.2451A>T ENSP00000513741.1:p.Ala817=
ENST00000698460.1:c.*279-150A>T ENSP00000513742.1:n.*279-150A>T
ENST00000698461.1:n.2906A>T
ENST00000698462.1:n.2826A>T
ENST00000698468.1:n.3107A>T
ENST00000698469.1:c.*1963A>T ENSP00000513743.1:n.*1963A>T
ENST00000698470.1:c.*458A>T ENSP00000513744.1:n.*458A>T
ENST00000698471.1:n.2906A>T
ENST00000698472.1:c.*1331A>T ENSP00000513745.1:n.*1331A>T
ENST00000698473.1:n.2906A>T
ENST00000698474.1:n.2906A>T
ENST00000698475.1:n.2991A>T
ENST00000698476.1:c.2451A>T ENSP00000513746.1:p.Ala817=
ENST00000698477.1:c.2442-150A>T ENSP00000513747.1:n.2442-150A>T
ENST00000698478.1:n.2906A>T
ENST00000698479.1:c.2451A>T ENSP00000513748.1:p.Ala817=
ENST00000698480.1:c.2437-150A>T ENSP00000513749.1:n.2437-150A>T
ENST00000698481.1:c.2437-150A>T ENSP00000513750.1:n.2437-150A>T
ENST00000698482.1:n.2741A>T
ENST00000698483.1:n.2906A>T
ENST00000698484.1:c.2451A>T ENSP00000513751.1:p.Ala817=
ENST00000698485.1:c.2437-150A>T ENSP00000513752.1:n.2437-150A>T
ENST00000698486.1:n.2906A>T
ENST00000698487.1:c.2451A>T ENSP00000513753.1:p.Ala817=
ENST00000698488.1:c.2260-150A>T ENSP00000513754.1:n.2260-150A>T
ENST00000698489.1:n.6691A>T
ENST00000698490.1:c.2451A>T ENSP00000513755.1:p.Ala817=
ENST00000698492.1:c.*1166A>T ENSP00000513756.1:n.*1166A>T
ENST00000698493.1:n.2741A>T
ENST00000698494.1:c.*346A>T ENSP00000513757.1:n.*346A>T
ENST00000358746.7:c.2451A>T MANE Select ENSP00000351596.3:p.Ala817=
ENST00000649566.1:c.2451A>T ENSP00000497948.1:p.Ala817=
ENST00000358746.6:c.2451A>T ENSP00000351596.2:p.Ala817=
ENST00000506007.1:n.33A>T
ENST00000507805.5:n.638A>T
NM_014639.3:c.2451A>T , LRG_173t1:c.2451A>T NP_055454.1:p.Ala817=
XR_948312.1:n.2720A>T
XR_001742370.2:n.2723A>T
NM_014639.4:c.2451A>T MANE Select NP_055454.1:p.Ala817=