Canonical Allele Identifier: CA2277865101
Community Standard Title: NM_000199.5(SGSH):c.197C= (p.Ser66=)
Gene: SGSH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80217084G= , CM000679.2:g.80217084G= GRCh38
NC_000017.10:g.78190883G= , CM000679.1:g.78190883G= GRCh37
NC_000017.9:g.75805478G= NCBI36
NG_008229.1:g.8317C=

Transcript Alleles

HGVS Amino-acid Change
NM_000199.5:c.197C= MANE Select NP_000190.1:p.Ser66=
ENST00000326317.11:c.197C= MANE Select ENSP00000314606.6:p.Ser66=
NM_000199.3:c.197C= NP_000190.1:p.Ser66=
NM_000199.4:c.197C= NP_000190.1:p.Ser66=
NM_001352921.1:c.197C= NP_001339850.1:p.Ser66=
NM_001352921.2:c.197C= NP_001339850.1:p.Ser66=
NM_001352921.3:c.197C= NP_001339850.1:p.Ser66=
NM_001352922.1:c.197C= NP_001339851.1:p.Ser66=
NM_001352922.2:c.197C= NP_001339851.1:p.Ser66=
NR_148201.1:n.284C=
NR_148201.2:n.217C=
ENST00000326317.10:c.197C= ENSP00000314606.6:p.Ser66=
ENST00000570427.1:c.197C= ENSP00000459765.1:p.Ser66=
ENST00000570923.1:c.232C= ENSP00000458200.1:p.Arg78=
ENST00000571051.5:n.217C=
ENST00000571075.1:n.217C=
ENST00000571675.5:n.217C=
ENST00000572208.5:n.215C=
ENST00000573150.5:c.197C= ENSP00000459280.1:p.Ser66=
ENST00000574505.5:c.142C=
ENST00000575188.5:n.217C=
ENST00000575282.5:n.206C=
ENST00000576707.5:c.-65C= ENSP00000461128.1:n.-65C=
ENST00000576941.5:c.197C= ENSP00000461160.1:p.Ser66=
XM_005257582.2:c.197C= XP_005257639.1:p.Ser66=
XM_005257583.3:c.197C= XP_005257640.1:p.Ser66=
XM_005257583.4:c.197C= XP_005257640.1:p.Ser66=
XM_011525126.1:c.197C= XP_011523428.1:p.Ser66=
XM_011525127.1:c.197C= XP_011523429.1:p.Ser66=
XM_017024952.1:c.197C= XP_016880441.1:p.Ser66=
XR_001752585.1:n.217C=
XR_001752586.1:n.217C=
XR_001752587.1:n.217C=
XR_001752588.1:n.217C=
XR_001752589.1:n.217C=
XR_001752590.1:n.217C=
XR_001752591.1:n.217C=
XR_001752592.1:n.217C=
XR_002958057.1:n.217C=
XR_934532.1:n.217C=
XR_934532.2:n.217C=