Canonical Allele Identifier: CA1619384508

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969816C= , CM000668.2:g.31969816C= GRCh38
NC_000006.11:g.31937593C= , CM000668.1:g.31937593C= GRCh37
NC_000006.10:g.32045572C= NCBI36
NG_032652.1:g.16013C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2890C= (SKIC2) ENSP00000419905.1:n.*2890C=
ENST00000337523.10:c.*61G= (DXO) MANE Select ENSP00000337759.5:n.*61G=
ENST00000337523.9:c.*61G= (DXO) ENSP00000337759.5:n.*61G=
ENST00000375349.7:c.*61G= (DXO) ENSP00000364498.3:n.*61G=
ENST00000473976.1:n.2024G= (DXO)
ENST00000477826.5:n.2087G= (DXO)
ENST00000485557.5:n.1872G= (DXO)
ENST00000491327.5:n.1389G= (DXO)
ENST00000495340.5:c.585G= (DXO)
NM_005510.3:c.*61G= (DXO) NP_005501.2:n.*61G=
XM_006715005.2:c.*61G= (DXO) XP_006715068.1:n.*61G=
XM_006715007.2:c.*61G= (DXO) XP_006715070.1:n.*61G=
XR_926081.1:n.1725G= (DXO)
XR_926082.1:n.1752G= (DXO)
XM_006715005.3:c.*61G= (DXO) XP_006715068.1:n.*61G=
XM_017010329.1:c.*61G= (DXO) XP_016865818.1:n.*61G=
XR_002956262.1:n.1484G= (DXO)
XR_002956263.1:n.1650G= (DXO)
XR_002956264.1:n.1550G= (DXO)
XR_926082.2:n.1492G= (DXO)
XR_926301.3:n.3858C= (SKIC2)
NM_005510.4:c.*61G= (DXO) MANE Select NP_005501.2:n.*61G=
NM_001371205.1:c.*61G= (DXO) NP_001358134.1:n.*61G=
NM_001371206.1:c.*61G= (DXO) NP_001358135.1:n.*61G=