Canonical Allele Identifier: CA360457774

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852258A>G (hg19) ; chr5:g.95516554A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516554A>G , CM000667.2:g.95516554A>G	GRCh38
NC_000005.9:g.94852258A>G , CM000667.1:g.94852258A>G	GRCh37
NC_000005.8:g.94878014A>G	NCBI36
NG_023414.1:g.43452T>C , LRG_173:g.43452T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.3088T>C
ENST00000513232.2:c.*1513T>C	ENSP00000422749.2:n.*1513T>C
ENST00000698450.1:n.1932T>C
ENST00000698451.1:n.2218T>C
ENST00000698452.1:n.3289T>C
ENST00000698453.1:c.2474T>C	ENSP00000513735.1:p.Phe825Ser
ENST00000698454.1:c.2539T>C	ENSP00000513736.1:p.Phe847Leu
ENST00000698455.1:c.*2774T>C	ENSP00000513737.1:n.*2774T>C
ENST00000698456.1:c.*1406T>C	ENSP00000513738.1:n.*1406T>C
ENST00000698457.1:c.2338T>C	ENSP00000513739.1:p.Phe780Leu
ENST00000698458.1:c.2510T>C	ENSP00000513740.1:p.Phe837Ser
ENST00000698459.1:c.2548T>C	ENSP00000513741.1:p.Phe850Leu
ENST00000698460.1:c.*311T>C	ENSP00000513742.1:n.*311T>C
ENST00000698461.1:n.3003T>C
ENST00000698462.1:n.2923T>C
ENST00000698468.1:n.3289T>C
ENST00000698469.1:c.*2145T>C	ENSP00000513743.1:n.*2145T>C
ENST00000698470.1:c.*640T>C	ENSP00000513744.1:n.*640T>C
ENST00000698471.1:n.3088T>C
ENST00000698472.1:c.*1513T>C	ENSP00000513745.1:n.*1513T>C
ENST00000698473.1:n.3088T>C
ENST00000698474.1:n.3088T>C
ENST00000698475.1:n.3173T>C
ENST00000698476.1:c.2548T>C	ENSP00000513746.1:p.Phe850Leu
ENST00000698477.1:c.2474T>C	ENSP00000513747.1:p.Phe825Ser
ENST00000698478.1:n.3088T>C
ENST00000698479.1:c.2548T>C	ENSP00000513748.1:p.Phe850Leu
ENST00000698480.1:c.2469T>C	ENSP00000513749.1:p.Val823=
ENST00000698481.1:c.2469T>C	ENSP00000513750.1:p.Val823=
ENST00000698482.1:n.2838T>C
ENST00000698483.1:n.3003T>C
ENST00000698484.1:c.2548T>C	ENSP00000513751.1:p.Phe850Leu
ENST00000698485.1:c.2469T>C	ENSP00000513752.1:p.Val823=
ENST00000698486.1:n.3088T>C
ENST00000698487.1:c.2548T>C	ENSP00000513753.1:p.Phe850Leu
ENST00000698488.1:c.2292T>C	ENSP00000513754.1:p.Val764=
ENST00000698489.1:n.6873T>C
ENST00000698490.1:c.2548T>C	ENSP00000513755.1:p.Phe850Leu
ENST00000698492.1:c.*1263T>C	ENSP00000513756.1:n.*1263T>C
ENST00000698493.1:n.2838T>C
ENST00000698494.1:c.*528T>C	ENSP00000513757.1:n.*528T>C
ENST00000358746.7:c.2548T>C MANE Select	ENSP00000351596.3:p.Phe850Leu
ENST00000649566.1:c.2548T>C	ENSP00000497948.1:p.Phe850Leu
ENST00000358746.6:c.2548T>C	ENSP00000351596.2:p.Phe850Leu
ENST00000506007.1:n.215T>C
ENST00000507805.5:n.820T>C
ENST00000508181.5:n.121T>C
NM_014639.3:c.2548T>C , LRG_173t1:c.2548T>C	NP_055454.1:p.Phe850Leu
XR_948312.1:n.2817T>C
XR_001742370.2:n.2820T>C
NM_014639.4:c.2548T>C MANE Select	NP_055454.1:p.Phe850Leu