Canonical Allele Identifier: CA2078644844
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341609G= , CM000675.2:g.23341609G= GRCh38
NC_000013.10:g.23915748G= , CM000675.1:g.23915748G= GRCh37
NC_000013.9:g.22813748G= NCBI36
NG_012342.1:g.97094C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+12176C= ENSP00000508399.1:n.2185+12176C=
ENST00000682944.1:c.2294C= ENSP00000507173.1:p.Pro765=
ENST00000683210.1:c.2185+12176C= ENSP00000506739.1:n.2185+12176C=
ENST00000683270.1:c.2258C= ENSP00000507624.1:p.Pro753=
ENST00000683367.1:c.2177-12125C= ENSP00000507780.1:n.2177-12125C=
ENST00000683489.1:c.2267C= ENSP00000508403.1:p.Pro756=
ENST00000683680.1:c.2294C= ENSP00000507223.1:p.Pro765=
ENST00000684163.1:c.2203+5202C= ENSP00000508262.1:n.2203+5202C=
ENST00000684196.1:n.4543-12125C=
ENST00000684325.1:c.2185+12176C= ENSP00000508121.1:n.2185+12176C=
ENST00000684385.1:c.2220+5202C= ENSP00000507855.1:n.2220+5202C=
ENST00000684497.1:c.2185+12176C= ENSP00000507057.1:n.2185+12176C=
ENST00000382292.9:c.2267C= MANE Select ENSP00000371729.3:p.Pro756=
ENST00000423156.2:c.2186-12125C= ENSP00000390925.2:n.2186-12125C=
ENST00000455470.6:c.2267C= ENSP00000406565.2:p.Pro756=
ENST00000382292.7:c.2267C= ENSP00000371729.3:p.Pro756=
ENST00000382298.7:c.2267C= ENSP00000371735.3:p.Pro756=
ENST00000402364.1:c.17C= ENSP00000385844.1:p.Pro6=
ENST00000423156.1:c.1058-12125C= ENSP00000390925.1:n.1058-12125C=
ENST00000455470.5:c.1965C=
NM_001278055.1:c.1826C= NP_001264984.1:p.Pro609=
NM_014363.5:c.2267C= NP_055178.3:p.Pro756=
XM_005266338.1:c.2294C= XP_005266395.1:p.Pro765=
XM_011535038.1:c.2318C= XP_011533340.1:p.Pro773=
XM_011535039.1:c.2285C= XP_011533341.1:p.Pro762=
XM_005266338.2:c.2294C= XP_005266395.1:p.Pro765=
XM_011535039.2:c.2285C= XP_011533341.1:p.Pro762=
XM_017020539.1:c.2258C= XP_016876028.1:p.Pro753=
XM_024449337.1:c.2294C= XP_024305105.1:p.Pro765=
NM_014363.6:c.2267C= MANE Select NP_055178.3:p.Pro756=
NM_001278055.2:c.1826C= NP_001264984.1:p.Pro609=