Canonical Allele Identifier: CA445483024

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852289A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516585A>C , CM000667.2:g.95516585A>C	GRCh38
NC_000005.9:g.94852289A>C , CM000667.1:g.94852289A>C	GRCh37
NC_000005.8:g.94878045A>C	NCBI36
NG_023414.1:g.43421T>G , LRG_173:g.43421T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.3057T>G
ENST00000513232.2:c.*1482T>G	ENSP00000422749.2:n.*1482T>G
ENST00000698450.1:n.1901T>G
ENST00000698451.1:n.2187T>G
ENST00000698452.1:n.3258T>G
ENST00000698453.1:c.2443T>G	ENSP00000513735.1:p.Tyr815Asp
ENST00000698454.1:c.2508T>G	ENSP00000513736.1:p.Gly836=
ENST00000698455.1:c.*2743T>G	ENSP00000513737.1:n.*2743T>G
ENST00000698456.1:c.*1375T>G	ENSP00000513738.1:n.*1375T>G
ENST00000698457.1:c.2307T>G	ENSP00000513739.1:p.Gly769=
ENST00000698458.1:c.2479T>G	ENSP00000513740.1:p.Tyr827Asp
ENST00000698459.1:c.2517T>G	ENSP00000513741.1:p.Gly839=
ENST00000698460.1:c.*280T>G	ENSP00000513742.1:n.*280T>G
ENST00000698461.1:n.2972T>G
ENST00000698462.1:n.2892T>G
ENST00000698468.1:n.3258T>G
ENST00000698469.1:c.*2114T>G	ENSP00000513743.1:n.*2114T>G
ENST00000698470.1:c.*609T>G	ENSP00000513744.1:n.*609T>G
ENST00000698471.1:n.3057T>G
ENST00000698472.1:c.*1482T>G	ENSP00000513745.1:n.*1482T>G
ENST00000698473.1:n.3057T>G
ENST00000698474.1:n.3057T>G
ENST00000698475.1:n.3142T>G
ENST00000698476.1:c.2517T>G	ENSP00000513746.1:p.Gly839=
ENST00000698477.1:c.2443T>G	ENSP00000513747.1:p.Tyr815Asp
ENST00000698478.1:n.3057T>G
ENST00000698479.1:c.2517T>G	ENSP00000513748.1:p.Gly839=
ENST00000698480.1:c.2438T>G	ENSP00000513749.1:p.Val813Gly
ENST00000698481.1:c.2438T>G	ENSP00000513750.1:p.Val813Gly
ENST00000698482.1:n.2807T>G
ENST00000698483.1:n.2972T>G
ENST00000698484.1:c.2517T>G	ENSP00000513751.1:p.Gly839=
ENST00000698485.1:c.2438T>G	ENSP00000513752.1:p.Val813Gly
ENST00000698486.1:n.3057T>G
ENST00000698487.1:c.2517T>G	ENSP00000513753.1:p.Gly839=
ENST00000698488.1:c.2261T>G	ENSP00000513754.1:p.Val754Gly
ENST00000698489.1:n.6842T>G
ENST00000698490.1:c.2517T>G	ENSP00000513755.1:p.Gly839=
ENST00000698492.1:c.*1232T>G	ENSP00000513756.1:n.*1232T>G
ENST00000698493.1:n.2807T>G
ENST00000698494.1:c.*497T>G	ENSP00000513757.1:n.*497T>G
ENST00000358746.7:c.2517T>G MANE Select	ENSP00000351596.3:p.Gly839=
ENST00000649566.1:c.2517T>G	ENSP00000497948.1:p.Gly839=
ENST00000358746.6:c.2517T>G	ENSP00000351596.2:p.Gly839=
ENST00000506007.1:n.184T>G
ENST00000507805.5:n.789T>G
ENST00000508181.5:n.90T>G
NM_014639.3:c.2517T>G , LRG_173t1:c.2517T>G	NP_055454.1:p.Gly839=
XR_948312.1:n.2786T>G
XR_001742370.2:n.2789T>G
NM_014639.4:c.2517T>G MANE Select	NP_055454.1:p.Gly839=