Canonical Allele Identifier: CA360458009

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852381T>G (hg19) ; chr5:g.95516677T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516677T>G , CM000667.2:g.95516677T>G	GRCh38
NC_000005.9:g.94852381T>G , CM000667.1:g.94852381T>G	GRCh37
NC_000005.8:g.94878137T>G	NCBI36
NG_023414.1:g.43329A>C , LRG_173:g.43329A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.2965A>C
ENST00000513232.2:c.*1390A>C	ENSP00000422749.2:n.*1390A>C
ENST00000698450.1:n.1894A>C
ENST00000698451.1:n.2095A>C
ENST00000698452.1:n.3166A>C
ENST00000698453.1:c.2442-91A>C	ENSP00000513735.1:n.2442-91A>C
ENST00000698454.1:c.2501A>C	ENSP00000513736.1:p.Tyr834Ser
ENST00000698455.1:c.*2651A>C	ENSP00000513737.1:n.*2651A>C
ENST00000698456.1:c.*1368A>C	ENSP00000513738.1:n.*1368A>C
ENST00000698457.1:c.2300A>C	ENSP00000513739.1:p.Tyr767Ser
ENST00000698458.1:c.2478-91A>C	ENSP00000513740.1:n.2478-91A>C
ENST00000698459.1:c.2510A>C	ENSP00000513741.1:p.Tyr837Ser
ENST00000698460.1:c.*279-91A>C	ENSP00000513742.1:n.*279-91A>C
ENST00000698461.1:n.2965A>C
ENST00000698462.1:n.2885A>C
ENST00000698468.1:n.3166A>C
ENST00000698469.1:c.*2022A>C	ENSP00000513743.1:n.*2022A>C
ENST00000698470.1:c.*517A>C	ENSP00000513744.1:n.*517A>C
ENST00000698471.1:n.2965A>C
ENST00000698472.1:c.*1390A>C	ENSP00000513745.1:n.*1390A>C
ENST00000698473.1:n.2965A>C
ENST00000698474.1:n.2965A>C
ENST00000698475.1:n.3050A>C
ENST00000698476.1:c.2510A>C	ENSP00000513746.1:p.Tyr837Ser
ENST00000698477.1:c.2442-91A>C	ENSP00000513747.1:n.2442-91A>C
ENST00000698478.1:n.2965A>C
ENST00000698479.1:c.2510A>C	ENSP00000513748.1:p.Tyr837Ser
ENST00000698480.1:c.2437-91A>C	ENSP00000513749.1:n.2437-91A>C
ENST00000698481.1:c.2437-91A>C	ENSP00000513750.1:n.2437-91A>C
ENST00000698482.1:n.2800A>C
ENST00000698483.1:n.2965A>C
ENST00000698484.1:c.2510A>C	ENSP00000513751.1:p.Tyr837Ser
ENST00000698485.1:c.2437-91A>C	ENSP00000513752.1:n.2437-91A>C
ENST00000698486.1:n.2965A>C
ENST00000698487.1:c.2510A>C	ENSP00000513753.1:p.Tyr837Ser
ENST00000698488.1:c.2260-91A>C	ENSP00000513754.1:n.2260-91A>C
ENST00000698489.1:n.6750A>C
ENST00000698490.1:c.2510A>C	ENSP00000513755.1:p.Tyr837Ser
ENST00000698492.1:c.*1225A>C	ENSP00000513756.1:n.*1225A>C
ENST00000698493.1:n.2800A>C
ENST00000698494.1:c.*405A>C	ENSP00000513757.1:n.*405A>C
ENST00000358746.7:c.2510A>C MANE Select	ENSP00000351596.3:p.Tyr837Ser
ENST00000649566.1:c.2510A>C	ENSP00000497948.1:p.Tyr837Ser
ENST00000358746.6:c.2510A>C	ENSP00000351596.2:p.Tyr837Ser
ENST00000506007.1:n.92A>C
ENST00000507805.5:n.697A>C
NM_014639.3:c.2510A>C , LRG_173t1:c.2510A>C	NP_055454.1:p.Tyr837Ser
XR_948312.1:n.2779A>C
XR_001742370.2:n.2782A>C
NM_014639.4:c.2510A>C MANE Select	NP_055454.1:p.Tyr837Ser