Canonical Allele Identifier: CA2277862389
Community Standard Title: NM_000199.5(SGSH):c.1093C= (p.Gln365=)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210868G= , CM000679.2:g.80210868G= GRCh38
NC_000017.10:g.78184667G= , CM000679.1:g.78184667G= GRCh37
NC_000017.9:g.75799262G= NCBI36
NG_008229.1:g.14533C=
NG_032778.1:g.45877G=

Transcript Alleles

HGVS Amino-acid Change
NM_000199.5:c.1093C= (SGSH) MANE Select NP_000190.1:p.Gln365=
ENST00000326317.11:c.1093C= (SGSH) MANE Select ENSP00000314606.6:p.Gln365=
NM_000199.3:c.1093C= (SGSH) NP_000190.1:p.Gln365=
NM_000199.4:c.1093C= (SGSH) NP_000190.1:p.Gln365=
NM_001352921.1:c.*180C= (SGSH) NP_001339850.1:n.*180C=
NM_001352921.2:c.*180C= (SGSH) NP_001339850.1:n.*180C=
NM_001352921.3:c.*180C= (SGSH) NP_001339850.1:n.*180C=
NM_001352922.1:c.*143C= (SGSH) NP_001339851.1:n.*143C=
NM_001352922.2:c.*143C= (SGSH) NP_001339851.1:n.*143C=
NR_148201.1:n.1074C= (SGSH)
NR_148201.2:n.1007C= (SGSH)
ENST00000326317.10:c.1093C= (SGSH) ENSP00000314606.6:p.Gln365=
ENST00000572257.5:c.551+1203C= (SGSH)
ENST00000573150.5:c.*303C= (SGSH) ENSP00000459280.1:n.*303C=
ENST00000575282.5:n.3976C= (SGSH)
ENST00000576856.1:c.347C= (SGSH) ENSP00000460720.1:n.347C=
ENST00000703570.1:n.2844+1610G= (CARD14)
XM_005257583.3:c.949+1203C= (SGSH) XP_005257640.1:n.949+1203C=
XM_005257583.4:c.949+1203C= (SGSH) XP_005257640.1:n.949+1203C=
XM_017024952.1:c.*997C= (SGSH) XP_016880441.1:n.*997C=
XR_001752585.1:n.1113C= (SGSH)
XR_001752586.1:n.969+1203C= (SGSH)
XR_001752587.1:n.969+1203C= (SGSH)
XR_001752588.1:n.969+1203C= (SGSH)
XR_001752589.1:n.969+1203C= (SGSH)
XR_001752590.1:n.969+1203C= (SGSH)
XR_001752591.1:n.969+1203C= (SGSH)
XR_001752592.1:n.969+1203C= (SGSH)
XR_002958057.1:n.1024+1001C= (SGSH)