Canonical Allele Identifier: CA1619384507

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969814C= , CM000668.2:g.31969814C= GRCh38
NC_000006.11:g.31937591C= , CM000668.1:g.31937591C= GRCh37
NC_000006.10:g.32045570C= NCBI36
NG_032652.1:g.16011C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2888C= (SKIC2) ENSP00000419905.1:n.*2888C=
ENST00000337523.9:c.*63G= (DXO) ENSP00000337759.5:n.*63G=
ENST00000375349.7:c.*63G= (DXO) ENSP00000364498.3:n.*63G=
ENST00000477826.5:n.2089G= (DXO)
ENST00000485557.5:n.1874G= (DXO)
ENST00000491327.5:n.1391G= (DXO)
NM_005510.3:c.*63G= (DXO) NP_005501.2:n.*63G=
XM_006715005.2:c.*63G= (DXO) XP_006715068.1:n.*63G=
XM_006715007.2:c.*63G= (DXO) XP_006715070.1:n.*63G=
XR_926081.1:n.1727G= (DXO)
XR_926082.1:n.1754G= (DXO)
XM_006715005.3:c.*63G= (DXO) XP_006715068.1:n.*63G=
XM_017010329.1:c.*63G= (DXO) XP_016865818.1:n.*63G=
XR_002956262.1:n.1486G= (DXO)
XR_002956263.1:n.1652G= (DXO)
XR_002956264.1:n.1552G= (DXO)
XR_926082.2:n.1494G= (DXO)
XR_926301.3:n.3856C= (SKIC2)