Canonical Allele Identifier: CA8817759
Gene: SGSH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 265258
dbSNP Id: rs143947056

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80212143G>A , CM000679.2:g.80212143G>A GRCh38
NC_000017.10:g.78185942G>A , CM000679.1:g.78185942G>A GRCh37
NC_000017.9:g.75800537G>A NCBI36
NG_008229.1:g.13258C>T

Transcript Alleles

HGVS Amino-acid change
NM_000199.3:c.877C>T VV NP_000190.1:p.Pro293Ser
XM_005257582.2:c.877C>T XP_005257639.1:p.Pro293Ser
XM_005257583.3:c.877C>T XP_005257640.1:p.Pro293Ser
XM_011525126.1:c.877C>T XP_011523428.1:p.Pro293Ser
XM_011525127.1:c.877C>T XP_011523429.1:p.Pro293Ser
XR_934532.1:n.897C>T
NM_000199.4:c.877C>T VV NP_000190.1:p.Pro293Ser
NM_001352921.1:c.877C>T VV NP_001339850.1:p.Pro293Ser
NM_001352922.1:c.877C>T VV NP_001339851.1:p.Pro293Ser
NR_148201.1:n.858C>T
XM_005257583.4:c.877C>T XP_005257640.1:p.Pro293Ser
XM_017024952.1:c.877C>T XP_016880441.1:p.Pro293Ser
XR_001752585.1:n.897C>T
XR_001752586.1:n.897C>T
XR_001752587.1:n.897C>T
XR_001752588.1:n.897C>T
XR_001752589.1:n.897C>T
XR_001752590.1:n.897C>T
XR_001752591.1:n.897C>T
XR_001752592.1:n.897C>T
XR_002958057.1:n.897C>T
XR_934532.2:n.897C>T
NM_000199.5:c.877C>T VV MANE Preferred NP_000190.1:p.Pro293Ser
ENST00000326317.10:c.877C>T ENSP00000314606.6:p.Pro293Ser
ENST00000570923.1:c.*87C>T ENSP00000458200.1:p.=
ENST00000572257.5:n.479C>T
ENST00000573150.5:c.*87C>T ENSP00000459280.1:p.=
ENST00000575282.5:n.2701C>T
ENST00000576856.1:n.76C>T ENSP00000460720.1:p.Pro26Ser