Canonical Allele Identifier: CA2078625983
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336673A= , CM000675.2:g.23336673A= GRCh38
NC_000013.10:g.23910812A= , CM000675.1:g.23910812A= GRCh37
NC_000013.9:g.22808812A= NCBI36
NG_012342.1:g.102030T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17112T= ENSP00000508399.1:n.2185+17112T=
ENST00000682944.1:c.7230T= ENSP00000507173.1:p.Ala2410=
ENST00000683210.1:c.2185+17112T= ENSP00000506739.1:n.2185+17112T=
ENST00000683270.1:c.6445+749T= ENSP00000507624.1:n.6445+749T=
ENST00000683367.1:c.2177-7189T= ENSP00000507780.1:n.2177-7189T=
ENST00000683489.1:c.2291+4912T= ENSP00000508403.1:n.2291+4912T=
ENST00000683680.1:c.2318+4912T= ENSP00000507223.1:n.2318+4912T=
ENST00000684163.1:c.2204-7189T= ENSP00000508262.1:n.2204-7189T=
ENST00000684196.1:n.4543-7189T=
ENST00000684325.1:c.2186-14999T= ENSP00000508121.1:n.2186-14999T=
ENST00000684385.1:c.2221-7189T= ENSP00000507855.1:n.2221-7189T=
ENST00000684497.1:c.2186-14029T= ENSP00000507057.1:n.2186-14029T=
ENST00000382292.9:c.7203T= MANE Select ENSP00000371729.3:p.Ala2401=
ENST00000423156.2:c.2186-7189T= ENSP00000390925.2:n.2186-7189T=
ENST00000455470.6:c.2431+4772T= ENSP00000406565.2:n.2431+4772T=
ENST00000382292.7:c.7203T= ENSP00000371729.3:p.Ala2401=
ENST00000382298.7:c.7203T= ENSP00000371735.3:p.Ala2401=
ENST00000402364.1:c.4953T= ENSP00000385844.1:p.Ala1651=
ENST00000423156.1:c.1058-7189T= ENSP00000390925.1:n.1058-7189T=
ENST00000455470.5:c.2129+4772T=
NM_001278055.1:c.6762T= NP_001264984.1:p.Ala2254=
NM_014363.5:c.7203T= NP_055178.3:p.Ala2401=
XM_005266338.1:c.7230T= XP_005266395.1:p.Ala2410=
XM_011535038.1:c.7254T= XP_011533340.1:p.Ala2418=
XM_011535039.1:c.7221T= XP_011533341.1:p.Ala2407=
XM_005266338.2:c.7230T= XP_005266395.1:p.Ala2410=
XM_011535039.2:c.7221T= XP_011533341.1:p.Ala2407=
XM_017020539.1:c.7194T= XP_016876028.1:p.Ala2398=
XM_024449337.1:c.7230T= XP_024305105.1:p.Ala2410=
NM_014363.6:c.7203T= MANE Select NP_055178.3:p.Ala2401=
NM_001278055.2:c.6762T= NP_001264984.1:p.Ala2254=