Canonical Allele Identifier: CA1619384506

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969813C= , CM000668.2:g.31969813C= GRCh38
NC_000006.11:g.31937590C= , CM000668.1:g.31937590C= GRCh37
NC_000006.10:g.32045569C= NCBI36
NG_032652.1:g.16010C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2887C= (SKIC2) ENSP00000419905.1:n.*2887C=
ENST00000337523.9:c.*64G= (DXO) ENSP00000337759.5:n.*64G=
ENST00000375349.7:c.*64G= (DXO) ENSP00000364498.3:n.*64G=
ENST00000477826.5:n.2090G= (DXO)
ENST00000485557.5:n.1875G= (DXO)
ENST00000491327.5:n.1392G= (DXO)
NM_005510.3:c.*64G= (DXO) NP_005501.2:n.*64G=
XM_006715005.2:c.*64G= (DXO) XP_006715068.1:n.*64G=
XM_006715007.2:c.*64G= (DXO) XP_006715070.1:n.*64G=
XR_926081.1:n.1728G= (DXO)
XR_926082.1:n.1755G= (DXO)
XM_006715005.3:c.*64G= (DXO) XP_006715068.1:n.*64G=
XM_017010329.1:c.*64G= (DXO) XP_016865818.1:n.*64G=
XR_002956262.1:n.1487G= (DXO)
XR_002956263.1:n.1653G= (DXO)
XR_002956264.1:n.1553G= (DXO)
XR_926082.2:n.1495G= (DXO)
XR_926301.3:n.3855C= (SKIC2)