Canonical Allele Identifier: CA445482892

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852250T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516546T>C , CM000667.2:g.95516546T>C	GRCh38
NC_000005.9:g.94852250T>C , CM000667.1:g.94852250T>C	GRCh37
NC_000005.8:g.94878006T>C	NCBI36
NG_023414.1:g.43460A>G , LRG_173:g.43460A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.3096A>G
ENST00000513232.2:c.*1521A>G	ENSP00000422749.2:n.*1521A>G
ENST00000698450.1:n.1940A>G
ENST00000698451.1:n.2226A>G
ENST00000698452.1:n.3297A>G
ENST00000698453.1:c.2482A>G	ENSP00000513735.1:p.Ile828Val
ENST00000698454.1:c.2547A>G	ENSP00000513736.1:p.Lys849=
ENST00000698455.1:c.*2782A>G	ENSP00000513737.1:n.*2782A>G
ENST00000698456.1:c.*1414A>G	ENSP00000513738.1:n.*1414A>G
ENST00000698457.1:c.2346A>G	ENSP00000513739.1:p.Lys782=
ENST00000698458.1:c.2518A>G	ENSP00000513740.1:p.Ile840Val
ENST00000698459.1:c.2556A>G	ENSP00000513741.1:p.Lys852=
ENST00000698460.1:c.*319A>G	ENSP00000513742.1:n.*319A>G
ENST00000698461.1:n.3011A>G
ENST00000698462.1:n.2931A>G
ENST00000698468.1:n.3297A>G
ENST00000698469.1:c.*2153A>G	ENSP00000513743.1:n.*2153A>G
ENST00000698470.1:c.*648A>G	ENSP00000513744.1:n.*648A>G
ENST00000698471.1:n.3096A>G
ENST00000698472.1:c.*1521A>G	ENSP00000513745.1:n.*1521A>G
ENST00000698473.1:n.3096A>G
ENST00000698474.1:n.3096A>G
ENST00000698475.1:n.3181A>G
ENST00000698476.1:c.2556A>G	ENSP00000513746.1:p.Lys852=
ENST00000698477.1:c.2482A>G	ENSP00000513747.1:p.Ile828Val
ENST00000698478.1:n.3096A>G
ENST00000698479.1:c.2556A>G	ENSP00000513748.1:p.Lys852=
ENST00000698480.1:c.2477A>G	ENSP00000513749.1:p.Asn826Ser
ENST00000698481.1:c.2477A>G	ENSP00000513750.1:p.Asn826Ser
ENST00000698482.1:n.2846A>G
ENST00000698483.1:n.3011A>G
ENST00000698484.1:c.2556A>G	ENSP00000513751.1:p.Lys852=
ENST00000698485.1:c.2477A>G	ENSP00000513752.1:p.Asn826Ser
ENST00000698486.1:n.3096A>G
ENST00000698487.1:c.2556A>G	ENSP00000513753.1:p.Lys852=
ENST00000698488.1:c.2300A>G	ENSP00000513754.1:p.Asn767Ser
ENST00000698489.1:n.6881A>G
ENST00000698490.1:c.2556A>G	ENSP00000513755.1:p.Lys852=
ENST00000698492.1:c.*1271A>G	ENSP00000513756.1:n.*1271A>G
ENST00000698493.1:n.2846A>G
ENST00000698494.1:c.*536A>G	ENSP00000513757.1:n.*536A>G
ENST00000358746.7:c.2556A>G MANE Select	ENSP00000351596.3:p.Lys852=
ENST00000649566.1:c.2556A>G	ENSP00000497948.1:p.Lys852=
ENST00000358746.6:c.2556A>G	ENSP00000351596.2:p.Lys852=
ENST00000506007.1:n.223A>G
ENST00000507805.5:n.828A>G
ENST00000508181.5:n.129A>G
NM_014639.3:c.2556A>G , LRG_173t1:c.2556A>G	NP_055454.1:p.Lys852=
XR_948312.1:n.2825A>G
XR_001742370.2:n.2828A>G
NM_014639.4:c.2556A>G MANE Select	NP_055454.1:p.Lys852=