Canonical Allele Identifier: CA2277862138

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210402G= , CM000679.2:g.80210402G= GRCh38
NC_000017.10:g.78184201G= , CM000679.1:g.78184201G= GRCh37
NC_000017.9:g.75798796G= NCBI36
NG_008229.1:g.14999C=
NG_032778.1:g.45411G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+1144G= (CARD14)
ENST00000326317.11:c.*50C= (SGSH) MANE Select ENSP00000314606.6:n.*50C=
ENST00000326317.10:c.*50C= (SGSH) ENSP00000314606.6:n.*50C=
ENST00000572257.5:c.551+1669C= (SGSH)
ENST00000573150.5:c.*769C= (SGSH) ENSP00000459280.1:n.*769C=
ENST00000575282.5:n.4442C= (SGSH)
ENST00000576856.1:c.813C= (SGSH) ENSP00000460720.1:n.813C=
NM_000199.3:c.*50C= (SGSH) NP_000190.1:n.*50C=
XM_005257583.3:c.949+1669C= (SGSH) XP_005257640.1:n.949+1669C=
NM_000199.4:c.*50C= (SGSH) NP_000190.1:n.*50C=
NM_001352921.1:c.*646C= (SGSH) NP_001339850.1:n.*646C=
NM_001352922.1:c.*609C= (SGSH) NP_001339851.1:n.*609C=
NR_148201.1:n.1540C= (SGSH)
XM_005257583.4:c.949+1669C= (SGSH) XP_005257640.1:n.949+1669C=
XM_017024952.1:c.*1463C= (SGSH) XP_016880441.1:n.*1463C=
XR_001752585.1:n.1579C= (SGSH)
XR_001752586.1:n.969+1669C= (SGSH)
XR_001752587.1:n.969+1669C= (SGSH)
XR_001752588.1:n.969+1669C= (SGSH)
XR_001752589.1:n.969+1669C= (SGSH)
XR_001752590.1:n.969+1669C= (SGSH)
XR_001752591.1:n.969+1669C= (SGSH)
XR_001752592.1:n.969+1669C= (SGSH)
XR_002958057.1:n.1024+1467C= (SGSH)
NM_000199.5:c.*50C= (SGSH) MANE Select NP_000190.1:n.*50C=
NM_001352921.2:c.*646C= (SGSH) NP_001339850.1:n.*646C=
NM_001352922.2:c.*609C= (SGSH) NP_001339851.1:n.*609C=
NR_148201.2:n.1473C= (SGSH)
NM_001352921.3:c.*646C= (SGSH) NP_001339850.1:n.*646C=