Canonical Allele Identifier: CA360458168

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852407C>A (hg19) ; chr5:g.95516703C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516703C>A , CM000667.2:g.95516703C>A	GRCh38
NC_000005.9:g.94852407C>A , CM000667.1:g.94852407C>A	GRCh37
NC_000005.8:g.94878163C>A	NCBI36
NG_023414.1:g.43303G>T , LRG_173:g.43303G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.2939G>T
ENST00000513232.2:c.*1364G>T	ENSP00000422749.2:n.*1364G>T
ENST00000698450.1:n.1868G>T
ENST00000698451.1:n.2069G>T
ENST00000698452.1:n.3140G>T
ENST00000698453.1:c.2442-117G>T	ENSP00000513735.1:n.2442-117G>T
ENST00000698454.1:c.2475G>T	ENSP00000513736.1:p.Trp825Cys
ENST00000698455.1:c.*2625G>T	ENSP00000513737.1:n.*2625G>T
ENST00000698456.1:c.*1342G>T	ENSP00000513738.1:n.*1342G>T
ENST00000698457.1:c.2274G>T	ENSP00000513739.1:p.Trp758Cys
ENST00000698458.1:c.2478-117G>T	ENSP00000513740.1:n.2478-117G>T
ENST00000698459.1:c.2484G>T	ENSP00000513741.1:p.Trp828Cys
ENST00000698460.1:c.*279-117G>T	ENSP00000513742.1:n.*279-117G>T
ENST00000698461.1:n.2939G>T
ENST00000698462.1:n.2859G>T
ENST00000698468.1:n.3140G>T
ENST00000698469.1:c.*1996G>T	ENSP00000513743.1:n.*1996G>T
ENST00000698470.1:c.*491G>T	ENSP00000513744.1:n.*491G>T
ENST00000698471.1:n.2939G>T
ENST00000698472.1:c.*1364G>T	ENSP00000513745.1:n.*1364G>T
ENST00000698473.1:n.2939G>T
ENST00000698474.1:n.2939G>T
ENST00000698475.1:n.3024G>T
ENST00000698476.1:c.2484G>T	ENSP00000513746.1:p.Trp828Cys
ENST00000698477.1:c.2442-117G>T	ENSP00000513747.1:n.2442-117G>T
ENST00000698478.1:n.2939G>T
ENST00000698479.1:c.2484G>T	ENSP00000513748.1:p.Trp828Cys
ENST00000698480.1:c.2437-117G>T	ENSP00000513749.1:n.2437-117G>T
ENST00000698481.1:c.2437-117G>T	ENSP00000513750.1:n.2437-117G>T
ENST00000698482.1:n.2774G>T
ENST00000698483.1:n.2939G>T
ENST00000698484.1:c.2484G>T	ENSP00000513751.1:p.Trp828Cys
ENST00000698485.1:c.2437-117G>T	ENSP00000513752.1:n.2437-117G>T
ENST00000698486.1:n.2939G>T
ENST00000698487.1:c.2484G>T	ENSP00000513753.1:p.Trp828Cys
ENST00000698488.1:c.2260-117G>T	ENSP00000513754.1:n.2260-117G>T
ENST00000698489.1:n.6724G>T
ENST00000698490.1:c.2484G>T	ENSP00000513755.1:p.Trp828Cys
ENST00000698492.1:c.*1199G>T	ENSP00000513756.1:n.*1199G>T
ENST00000698493.1:n.2774G>T
ENST00000698494.1:c.*379G>T	ENSP00000513757.1:n.*379G>T
ENST00000358746.7:c.2484G>T MANE Select	ENSP00000351596.3:p.Trp828Cys
ENST00000649566.1:c.2484G>T	ENSP00000497948.1:p.Trp828Cys
ENST00000358746.6:c.2484G>T	ENSP00000351596.2:p.Trp828Cys
ENST00000506007.1:n.66G>T
ENST00000507805.5:n.671G>T
NM_014639.3:c.2484G>T , LRG_173t1:c.2484G>T	NP_055454.1:p.Trp828Cys
XR_948312.1:n.2753G>T
XR_001742370.2:n.2756G>T
NM_014639.4:c.2484G>T MANE Select	NP_055454.1:p.Trp828Cys