Canonical Allele Identifier: CA2277862015

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210158G= , CM000679.2:g.80210158G= GRCh38
NC_000017.10:g.78183957G= , CM000679.1:g.78183957G= GRCh37
NC_000017.9:g.75798552G= NCBI36
NG_008229.1:g.15243C=
NG_032778.1:g.45167G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+900G= (CARD14)
ENST00000326317.11:c.*294C= (SGSH) MANE Select ENSP00000314606.6:n.*294C=
ENST00000326317.10:c.*294C= (SGSH) ENSP00000314606.6:n.*294C=
ENST00000572257.5:c.551+1913C= (SGSH)
ENST00000573150.5:c.*1013C= (SGSH) ENSP00000459280.1:n.*1013C=
ENST00000575282.5:n.4686C= (SGSH)
NM_000199.3:c.*294C= (SGSH) NP_000190.1:n.*294C=
XM_005257583.3:c.949+1913C= (SGSH) XP_005257640.1:n.949+1913C=
NM_000199.4:c.*294C= (SGSH) NP_000190.1:n.*294C=
NM_001352921.1:c.*890C= (SGSH) NP_001339850.1:n.*890C=
NM_001352922.1:c.*853C= (SGSH) NP_001339851.1:n.*853C=
NR_148201.1:n.1784C= (SGSH)
XM_005257583.4:c.949+1913C= (SGSH) XP_005257640.1:n.949+1913C=
XM_017024952.1:c.*1707C= (SGSH) XP_016880441.1:n.*1707C=
XR_001752585.1:n.1823C= (SGSH)
XR_001752586.1:n.969+1913C= (SGSH)
XR_001752587.1:n.969+1913C= (SGSH)
XR_001752588.1:n.969+1913C= (SGSH)
XR_001752589.1:n.969+1913C= (SGSH)
XR_001752590.1:n.969+1913C= (SGSH)
XR_001752591.1:n.969+1913C= (SGSH)
XR_001752592.1:n.969+1913C= (SGSH)
XR_002958057.1:n.1024+1711C= (SGSH)
NM_000199.5:c.*294C= (SGSH) MANE Select NP_000190.1:n.*294C=
NM_001352921.2:c.*890C= (SGSH) NP_001339850.1:n.*890C=
NM_001352922.2:c.*853C= (SGSH) NP_001339851.1:n.*853C=
NR_148201.2:n.1717C= (SGSH)
NM_001352921.3:c.*890C= (SGSH) NP_001339850.1:n.*890C=