Canonical Allele Identifier: CA8817779
Community Standard Title: NM_000199.5(SGSH):c.780C>T (p.Ala260=)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80212240G>A , CM000679.2:g.80212240G>A GRCh38
NC_000017.10:g.78186039G>A , CM000679.1:g.78186039G>A GRCh37
NC_000017.9:g.75800634G>A NCBI36
NG_008229.1:g.13161C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000199.5:c.780C>T (SGSH) MANE Select NP_000190.1:p.Ala260=
ENST00000326317.11:c.780C>T (SGSH) MANE Select ENSP00000314606.6:p.Ala260=
NM_000199.3:c.780C>T (SGSH) NP_000190.1:p.Ala260=
NM_000199.4:c.780C>T (SGSH) NP_000190.1:p.Ala260=
NM_001352921.1:c.780C>T (SGSH) NP_001339850.1:p.Ala260=
NM_001352921.2:c.780C>T (SGSH) NP_001339850.1:p.Ala260=
NM_001352921.3:c.780C>T (SGSH) NP_001339850.1:p.Ala260=
NM_001352922.1:c.780C>T (SGSH) NP_001339851.1:p.Ala260=
NM_001352922.2:c.780C>T (SGSH) NP_001339851.1:p.Ala260=
NR_148201.1:n.761C>T (SGSH)
NR_148201.2:n.694C>T (SGSH)
ENST00000326317.10:c.780C>T (SGSH) ENSP00000314606.6:p.Ala260=
ENST00000570923.1:c.815C>T (SGSH) ENSP00000458200.1:p.Pro272Leu
ENST00000572257.5:c.382C>T (SGSH)
ENST00000573150.5:c.674C>T (SGSH) ENSP00000459280.1:p.Pro225Leu
ENST00000575282.5:n.2604C>T (SGSH)
ENST00000576941.5:c.*196C>T (SGSH) ENSP00000461160.1:n.*196C>T
ENST00000703570.1:n.2844+2982G>A (CARD14)
XM_005257582.2:c.780C>T (SGSH) XP_005257639.1:p.Ala260=
XM_005257583.3:c.780C>T (SGSH) XP_005257640.1:p.Ala260=
XM_005257583.4:c.780C>T (SGSH) XP_005257640.1:p.Ala260=
XM_011525126.1:c.780C>T (SGSH) XP_011523428.1:p.Ala260=
XM_011525127.1:c.780C>T (SGSH) XP_011523429.1:p.Ala260=
XM_017024952.1:c.780C>T (SGSH) XP_016880441.1:p.Ala260=
XR_001752585.1:n.800C>T (SGSH)
XR_001752586.1:n.800C>T (SGSH)
XR_001752587.1:n.800C>T (SGSH)
XR_001752588.1:n.800C>T (SGSH)
XR_001752589.1:n.800C>T (SGSH)
XR_001752590.1:n.800C>T (SGSH)
XR_001752591.1:n.800C>T (SGSH)
XR_001752592.1:n.800C>T (SGSH)
XR_002958057.1:n.800C>T (SGSH)
XR_934532.1:n.800C>T (SGSH)
XR_934532.2:n.800C>T (SGSH)