Canonical Allele Identifier: CA2277862325

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210746T= , CM000679.2:g.80210746T= GRCh38
NC_000017.10:g.78184545T= , CM000679.1:g.78184545T= GRCh37
NC_000017.9:g.75799140T= NCBI36
NG_008229.1:g.14655A=
NG_032778.1:g.45755T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+1488T= (CARD14)
ENST00000326317.11:c.1215A= (SGSH) MANE Select ENSP00000314606.6:p.Ser405=
ENST00000326317.10:c.1215A= (SGSH) ENSP00000314606.6:p.Ser405=
ENST00000572257.5:c.551+1325A= (SGSH)
ENST00000573150.5:c.*425A= (SGSH) ENSP00000459280.1:n.*425A=
ENST00000575282.5:n.4098A= (SGSH)
ENST00000576856.1:c.469A= (SGSH) ENSP00000460720.1:n.469A=
NM_000199.3:c.1215A= (SGSH) NP_000190.1:p.Ser405=
XM_005257583.3:c.949+1325A= (SGSH) XP_005257640.1:n.949+1325A=
NM_000199.4:c.1215A= (SGSH) NP_000190.1:p.Ser405=
NM_001352921.1:c.*302A= (SGSH) NP_001339850.1:n.*302A=
NM_001352922.1:c.*265A= (SGSH) NP_001339851.1:n.*265A=
NR_148201.1:n.1196A= (SGSH)
XM_005257583.4:c.949+1325A= (SGSH) XP_005257640.1:n.949+1325A=
XM_017024952.1:c.*1119A= (SGSH) XP_016880441.1:n.*1119A=
XR_001752585.1:n.1235A= (SGSH)
XR_001752586.1:n.969+1325A= (SGSH)
XR_001752587.1:n.969+1325A= (SGSH)
XR_001752588.1:n.969+1325A= (SGSH)
XR_001752589.1:n.969+1325A= (SGSH)
XR_001752590.1:n.969+1325A= (SGSH)
XR_001752591.1:n.969+1325A= (SGSH)
XR_001752592.1:n.969+1325A= (SGSH)
XR_002958057.1:n.1024+1123A= (SGSH)
NM_000199.5:c.1215A= (SGSH) MANE Select NP_000190.1:p.Ser405=
NM_001352921.2:c.*302A= (SGSH) NP_001339850.1:n.*302A=
NM_001352922.2:c.*265A= (SGSH) NP_001339851.1:n.*265A=
NR_148201.2:n.1129A= (SGSH)
NM_001352921.3:c.*302A= (SGSH) NP_001339850.1:n.*302A=