Canonical Allele Identifier: CA117263
Gene: SGSH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5114
dbSNP Id: rs104894639

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210622C>T , CM000679.2:g.80210622C>T GRCh38
NC_000017.9:g.75799016C>T NCBI36
NC_000017.10:g.78184421C>T , CM000679.1:g.78184421C>T GRCh37
NG_008229.1:g.14779G>A
NG_032778.1:g.45631C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000326317.10:c.1339G>A ENSP00000314606.6:p.Glu447Lys
ENST00000572257.5:n.551+1449G>A
ENST00000573150.5:c.*549G>A ENSP00000459280.1:p.=
ENST00000575282.5:n.4222G>A
ENST00000576856.1:n.593G>A ENSP00000460720.1:p.=
NM_000199.3:c.1339G>A VV NP_000190.1:p.Glu447Lys
XM_005257583.3:c.949+1449G>A XP_005257640.1:p.=