Canonical Allele Identifier: CA360463841

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94859363T>A (hg19) ; chr5:g.95523659T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95523659T>A , CM000667.2:g.95523659T>A	GRCh38
NC_000005.9:g.94859363T>A , CM000667.1:g.94859363T>A	GRCh37
NC_000005.8:g.94885119T>A	NCBI36
NG_023414.1:g.36347A>T , LRG_173:g.36347A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.1918A>T
ENST00000513232.2:c.*343A>T	ENSP00000422749.2:n.*343A>T
ENST00000698450.1:n.1012A>T
ENST00000698451.1:n.1048A>T
ENST00000698452.1:n.2119A>T
ENST00000698453.1:c.1628A>T	ENSP00000513735.1:p.Asp543Val
ENST00000698454.1:c.1619A>T	ENSP00000513736.1:p.Asp540Val
ENST00000698455.1:c.*1604A>T	ENSP00000513737.1:n.*1604A>T
ENST00000698456.1:c.*486A>T	ENSP00000513738.1:n.*486A>T
ENST00000698457.1:c.1628A>T	ENSP00000513739.1:p.Asp543Val
ENST00000698458.1:c.1664A>T	ENSP00000513740.1:p.Asp555Val
ENST00000698459.1:c.1628A>T	ENSP00000513741.1:p.Asp543Val
ENST00000698460.1:c.1628A>T	ENSP00000513742.1:p.Asp543Val
ENST00000698461.1:n.1918A>T
ENST00000698462.1:n.1918A>T
ENST00000698468.1:n.2119A>T
ENST00000698469.1:c.*975A>T	ENSP00000513743.1:n.*975A>T
ENST00000698470.1:c.1628A>T	ENSP00000513744.1:p.Asp543Val
ENST00000698471.1:n.1918A>T
ENST00000698472.1:c.*343A>T	ENSP00000513745.1:n.*343A>T
ENST00000698473.1:n.1918A>T
ENST00000698474.1:n.1918A>T
ENST00000698475.1:n.1918A>T
ENST00000698476.1:c.1628A>T	ENSP00000513746.1:p.Asp543Val
ENST00000698477.1:c.1628A>T	ENSP00000513747.1:p.Asp543Val
ENST00000698478.1:n.1918A>T
ENST00000698479.1:c.1628A>T	ENSP00000513748.1:p.Asp543Val
ENST00000698480.1:c.1628A>T	ENSP00000513749.1:p.Asp543Val
ENST00000698481.1:c.1628A>T	ENSP00000513750.1:p.Asp543Val
ENST00000698482.1:n.1918A>T
ENST00000698483.1:n.1918A>T
ENST00000698484.1:c.1628A>T	ENSP00000513751.1:p.Asp543Val
ENST00000698485.1:c.1628A>T	ENSP00000513752.1:p.Asp543Val
ENST00000698486.1:n.1918A>T
ENST00000698487.1:c.1628A>T	ENSP00000513753.1:p.Asp543Val
ENST00000698488.1:c.1628A>T	ENSP00000513754.1:p.Asp543Val
ENST00000698489.1:n.5703A>T
ENST00000698490.1:c.1628A>T	ENSP00000513755.1:p.Asp543Val
ENST00000698492.1:c.*343A>T	ENSP00000513756.1:n.*343A>T
ENST00000698493.1:n.1918A>T
ENST00000698494.1:c.1628A>T	ENSP00000513757.1:p.Asp543Val
ENST00000358746.7:c.1628A>T MANE Select	ENSP00000351596.3:p.Asp543Val
ENST00000649566.1:c.1628A>T	ENSP00000497948.1:p.Asp543Val
ENST00000358746.6:c.1628A>T	ENSP00000351596.2:p.Asp543Val
ENST00000505578.5:c.320-333A>T	ENSP00000423141.1:n.320-333A>T
ENST00000513232.1:c.445A>T	ENSP00000422749.1:n.445A>T
ENST00000514952.5:c.1484A>T	ENSP00000423742.1:p.Asp495Val
NM_014639.3:c.1628A>T , LRG_173t1:c.1628A>T	NP_055454.1:p.Asp543Val
XR_948312.1:n.1897A>T
XR_001742370.2:n.1900A>T
NM_014639.4:c.1628A>T MANE Select	NP_055454.1:p.Asp543Val