Canonical Allele Identifier: CA2078627788
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330317G= , CM000675.2:g.23330317G= GRCh38
NC_000013.10:g.23904456G= , CM000675.1:g.23904456G= GRCh37
NC_000013.9:g.22802456G= NCBI36
NG_012342.1:g.108386C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18202C= ENSP00000508399.1:n.2186-18202C=
ENST00000682944.1:c.13586C= ENSP00000507173.1:p.Thr4529=
ENST00000683210.1:c.2185+23468C= ENSP00000506739.1:n.2185+23468C=
ENST00000683270.1:c.6446-833C= ENSP00000507624.1:n.6446-833C=
ENST00000683367.1:c.2177-833C= ENSP00000507780.1:n.2177-833C=
ENST00000683489.1:c.2292-365C= ENSP00000508403.1:n.2292-365C=
ENST00000683680.1:c.2319-365C= ENSP00000507223.1:n.2319-365C=
ENST00000684163.1:c.2204-833C= ENSP00000508262.1:n.2204-833C=
ENST00000684196.1:n.4543-833C=
ENST00000684325.1:c.2186-8643C= ENSP00000508121.1:n.2186-8643C=
ENST00000684385.1:c.2221-833C= ENSP00000507855.1:n.2221-833C=
ENST00000684497.1:c.2186-7673C= ENSP00000507057.1:n.2186-7673C=
ENST00000382292.9:c.13559C= MANE Select ENSP00000371729.3:p.Thr4520=
ENST00000423156.2:c.2186-833C= ENSP00000390925.2:n.2186-833C=
ENST00000455470.6:c.2432-833C= ENSP00000406565.2:n.2432-833C=
ENST00000382292.7:c.13559C= ENSP00000371729.3:p.Thr4520=
ENST00000382298.7:c.13559C= ENSP00000371735.3:p.Thr4520=
ENST00000402364.1:c.11309C= ENSP00000385844.1:p.Thr3770=
ENST00000423156.1:c.1058-833C= ENSP00000390925.1:n.1058-833C=
ENST00000455470.5:c.2130-833C=
NM_001278055.1:c.13118C= NP_001264984.1:p.Thr4373=
NM_014363.5:c.13559C= NP_055178.3:p.Thr4520=
XM_005266338.1:c.13586C= XP_005266395.1:p.Thr4529=
XM_011535038.1:c.13610C= XP_011533340.1:p.Thr4537=
XM_011535039.1:c.13577C= XP_011533341.1:p.Thr4526=
XM_005266338.2:c.13586C= XP_005266395.1:p.Thr4529=
XM_011535039.2:c.13577C= XP_011533341.1:p.Thr4526=
XM_017020539.1:c.13550C= XP_016876028.1:p.Thr4517=
XM_024449337.1:c.13586C= XP_024305105.1:p.Thr4529=
NM_014363.6:c.13559C= MANE Select NP_055178.3:p.Thr4520=
NM_001278055.2:c.13118C= NP_001264984.1:p.Thr4373=