Canonical Allele Identifier: CA3346799

Gene: SKIC3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95503011A>G , CM000667.2:g.95503011A>G	GRCh38
NC_000005.9:g.94838715A>G , CM000667.1:g.94838715A>G	GRCh37
NC_000005.8:g.94864471A>G	NCBI36
NG_023414.1:g.56995T>C , LRG_173:g.56995T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014639.4:c.3218-8T>C MANE Select	NP_055454.1:n.3218-8T>C
ENST00000358746.7:c.3218-8T>C MANE Select	ENSP00000351596.3:n.3218-8T>C
NM_014639.3:c.3218-8T>C , LRG_173t1:c.3218-8T>C	NP_055454.1:n.3218-8T>C
ENST00000358746.6:c.3218-8T>C	ENSP00000351596.2:n.3218-8T>C
ENST00000506007.2:n.4710-8T>C
ENST00000508181.5:n.772-8T>C
ENST00000513232.2:c.*2041-8T>C	ENSP00000422749.2:n.*2041-8T>C
ENST00000649566.1:c.3218-8T>C	ENSP00000497948.1:n.3218-8T>C
ENST00000698450.1:n.2602-8T>C
ENST00000698451.1:n.2888-8T>C
ENST00000698452.1:n.4060-8T>C
ENST00000698453.1:c.*639-8T>C	ENSP00000513735.1:n.*639-8T>C
ENST00000698454.1:c.3209-8T>C	ENSP00000513736.1:n.3209-8T>C
ENST00000698455.1:c.*3444-8T>C	ENSP00000513737.1:n.*3444-8T>C
ENST00000698456.1:c.*2076-8T>C	ENSP00000513738.1:n.*2076-8T>C
ENST00000698457.1:c.3008-8T>C	ENSP00000513739.1:n.3008-8T>C
ENST00000698458.1:c.*639-8T>C	ENSP00000513740.1:n.*639-8T>C
ENST00000698459.1:c.*580-8T>C	ENSP00000513741.1:n.*580-8T>C
ENST00000698460.1:c.*981-8T>C	ENSP00000513742.1:n.*981-8T>C
ENST00000698461.1:n.3673-8T>C
ENST00000698462.1:n.3593-8T>C
ENST00000698464.1:n.466-8T>C
ENST00000698465.1:n.243-8T>C
ENST00000698466.1:n.2435-8T>C
ENST00000698467.1:n.818-8T>C
ENST00000698468.1:n.4060-8T>C
ENST00000698469.1:c.*2673-8T>C	ENSP00000513743.1:n.*2673-8T>C
ENST00000698470.1:c.*1168-8T>C	ENSP00000513744.1:n.*1168-8T>C
ENST00000698471.1:n.3739-8T>C
ENST00000698472.1:c.*2222-8T>C	ENSP00000513745.1:n.*2222-8T>C
ENST00000698473.1:n.4717-8T>C
ENST00000698474.1:n.3819-8T>C
ENST00000698475.1:n.6425-8T>C
ENST00000698476.1:c.3218-8T>C	ENSP00000513746.1:n.3218-8T>C
ENST00000698477.1:c.*372-8T>C	ENSP00000513747.1:n.*372-8T>C
ENST00000698478.1:n.3472-8T>C
ENST00000698479.1:c.3218-8T>C	ENSP00000513748.1:n.3218-8T>C
ENST00000698480.1:c.*528-8T>C	ENSP00000513749.1:n.*528-8T>C
ENST00000698481.1:c.*371-8T>C	ENSP00000513750.1:n.*371-8T>C
ENST00000698482.1:n.4460-8T>C
ENST00000698483.1:n.4625-8T>C
ENST00000698484.1:c.*148-8T>C	ENSP00000513751.1:n.*148-8T>C
ENST00000698485.1:c.*513-8T>C	ENSP00000513752.1:n.*513-8T>C
ENST00000698486.1:n.3758-8T>C
ENST00000698487.1:c.3218-8T>C	ENSP00000513753.1:n.3218-8T>C
ENST00000698488.1:c.*390-8T>C	ENSP00000513754.1:n.*390-8T>C
ENST00000698489.1:n.7539-8T>C
ENST00000698490.1:c.3218-8T>C	ENSP00000513755.1:n.3218-8T>C
ENST00000698492.1:c.*1933-8T>C	ENSP00000513756.1:n.*1933-8T>C
ENST00000698493.1:n.3508-8T>C
XR_001742370.2:n.3348-8T>C
XR_948312.1:n.3345-8T>C