Canonical Allele Identifier: CA2277862321

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210741G= , CM000679.2:g.80210741G= GRCh38
NC_000017.10:g.78184540G= , CM000679.1:g.78184540G= GRCh37
NC_000017.9:g.75799135G= NCBI36
NG_008229.1:g.14660C=
NG_032778.1:g.45750G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+1483G= (CARD14)
ENST00000326317.11:c.1220C= (SGSH) MANE Select ENSP00000314606.6:p.Thr407=
ENST00000326317.10:c.1220C= (SGSH) ENSP00000314606.6:p.Thr407=
ENST00000572257.5:c.551+1330C= (SGSH)
ENST00000573150.5:c.*430C= (SGSH) ENSP00000459280.1:n.*430C=
ENST00000575282.5:n.4103C= (SGSH)
ENST00000576856.1:c.474C= (SGSH) ENSP00000460720.1:n.474C=
NM_000199.3:c.1220C= (SGSH) NP_000190.1:p.Thr407=
XM_005257583.3:c.949+1330C= (SGSH) XP_005257640.1:n.949+1330C=
NM_000199.4:c.1220C= (SGSH) NP_000190.1:p.Thr407=
NM_001352921.1:c.*307C= (SGSH) NP_001339850.1:n.*307C=
NM_001352922.1:c.*270C= (SGSH) NP_001339851.1:n.*270C=
NR_148201.1:n.1201C= (SGSH)
XM_005257583.4:c.949+1330C= (SGSH) XP_005257640.1:n.949+1330C=
XM_017024952.1:c.*1124C= (SGSH) XP_016880441.1:n.*1124C=
XR_001752585.1:n.1240C= (SGSH)
XR_001752586.1:n.969+1330C= (SGSH)
XR_001752587.1:n.969+1330C= (SGSH)
XR_001752588.1:n.969+1330C= (SGSH)
XR_001752589.1:n.969+1330C= (SGSH)
XR_001752590.1:n.969+1330C= (SGSH)
XR_001752591.1:n.969+1330C= (SGSH)
XR_001752592.1:n.969+1330C= (SGSH)
XR_002958057.1:n.1024+1128C= (SGSH)
NM_000199.5:c.1220C= (SGSH) MANE Select NP_000190.1:p.Thr407=
NM_001352921.2:c.*307C= (SGSH) NP_001339850.1:n.*307C=
NM_001352922.2:c.*270C= (SGSH) NP_001339851.1:n.*270C=
NR_148201.2:n.1134C= (SGSH)
NM_001352921.3:c.*307C= (SGSH) NP_001339850.1:n.*307C=