Canonical Allele Identifier: CA2277862000

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210125T= , CM000679.2:g.80210125T= GRCh38
NC_000017.10:g.78183924T= , CM000679.1:g.78183924T= GRCh37
NC_000017.9:g.75798519T= NCBI36
NG_008229.1:g.15276A=
NG_032778.1:g.45134T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+867T= (CARD14)
ENST00000326317.11:c.*327A= (SGSH) MANE Select ENSP00000314606.6:n.*327A=
ENST00000326317.10:c.*327A= (SGSH) ENSP00000314606.6:n.*327A=
ENST00000572257.5:c.551+1946A= (SGSH)
ENST00000573150.5:c.*1046A= (SGSH) ENSP00000459280.1:n.*1046A=
ENST00000575282.5:n.4719A= (SGSH)
NM_000199.3:c.*327A= (SGSH) NP_000190.1:n.*327A=
XM_005257583.3:c.949+1946A= (SGSH) XP_005257640.1:n.949+1946A=
NM_000199.4:c.*327A= (SGSH) NP_000190.1:n.*327A=
NM_001352921.1:c.*923A= (SGSH) NP_001339850.1:n.*923A=
NM_001352922.1:c.*886A= (SGSH) NP_001339851.1:n.*886A=
NR_148201.1:n.1817A= (SGSH)
XM_005257583.4:c.949+1946A= (SGSH) XP_005257640.1:n.949+1946A=
XM_017024952.1:c.*1740A= (SGSH) XP_016880441.1:n.*1740A=
XR_001752585.1:n.1856A= (SGSH)
XR_001752586.1:n.969+1946A= (SGSH)
XR_001752587.1:n.969+1946A= (SGSH)
XR_001752588.1:n.969+1946A= (SGSH)
XR_001752589.1:n.969+1946A= (SGSH)
XR_001752590.1:n.969+1946A= (SGSH)
XR_001752591.1:n.969+1946A= (SGSH)
XR_001752592.1:n.969+1946A= (SGSH)
XR_002958057.1:n.1024+1744A= (SGSH)
NM_000199.5:c.*327A= (SGSH) MANE Select NP_000190.1:n.*327A=
NM_001352921.2:c.*923A= (SGSH) NP_001339850.1:n.*923A=
NM_001352922.2:c.*886A= (SGSH) NP_001339851.1:n.*886A=
NR_148201.2:n.1750A= (SGSH)
NM_001352921.3:c.*923A= (SGSH) NP_001339850.1:n.*923A=