Canonical Allele Identifier: CA2277862328

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210752G= , CM000679.2:g.80210752G= GRCh38
NC_000017.10:g.78184551G= , CM000679.1:g.78184551G= GRCh37
NC_000017.9:g.75799146G= NCBI36
NG_008229.1:g.14649C=
NG_032778.1:g.45761G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+1494G= (CARD14)
ENST00000326317.11:c.1209C= (SGSH) MANE Select ENSP00000314606.6:p.Tyr403=
ENST00000326317.10:c.1209C= (SGSH) ENSP00000314606.6:p.Tyr403=
ENST00000572257.5:c.551+1319C= (SGSH)
ENST00000573150.5:c.*419C= (SGSH) ENSP00000459280.1:n.*419C=
ENST00000575282.5:n.4092C= (SGSH)
ENST00000576856.1:c.463C= (SGSH) ENSP00000460720.1:n.463C=
NM_000199.3:c.1209C= (SGSH) NP_000190.1:p.Tyr403=
XM_005257583.3:c.949+1319C= (SGSH) XP_005257640.1:n.949+1319C=
NM_000199.4:c.1209C= (SGSH) NP_000190.1:p.Tyr403=
NM_001352921.1:c.*296C= (SGSH) NP_001339850.1:n.*296C=
NM_001352922.1:c.*259C= (SGSH) NP_001339851.1:n.*259C=
NR_148201.1:n.1190C= (SGSH)
XM_005257583.4:c.949+1319C= (SGSH) XP_005257640.1:n.949+1319C=
XM_017024952.1:c.*1113C= (SGSH) XP_016880441.1:n.*1113C=
XR_001752585.1:n.1229C= (SGSH)
XR_001752586.1:n.969+1319C= (SGSH)
XR_001752587.1:n.969+1319C= (SGSH)
XR_001752588.1:n.969+1319C= (SGSH)
XR_001752589.1:n.969+1319C= (SGSH)
XR_001752590.1:n.969+1319C= (SGSH)
XR_001752591.1:n.969+1319C= (SGSH)
XR_001752592.1:n.969+1319C= (SGSH)
XR_002958057.1:n.1024+1117C= (SGSH)
NM_000199.5:c.1209C= (SGSH) MANE Select NP_000190.1:p.Tyr403=
NM_001352921.2:c.*296C= (SGSH) NP_001339850.1:n.*296C=
NM_001352922.2:c.*259C= (SGSH) NP_001339851.1:n.*259C=
NR_148201.2:n.1123C= (SGSH)
NM_001352921.3:c.*296C= (SGSH) NP_001339850.1:n.*296C=