Canonical Allele Identifier: CA2078629429
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331223G= , CM000675.2:g.23331223G= GRCh38
NC_000013.10:g.23905362G= , CM000675.1:g.23905362G= GRCh37
NC_000013.9:g.22803362G= NCBI36
NG_012342.1:g.107480C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-19108C= ENSP00000508399.1:n.2186-19108C=
ENST00000682944.1:c.12680C= ENSP00000507173.1:p.Ser4227=
ENST00000683210.1:c.2185+22562C= ENSP00000506739.1:n.2185+22562C=
ENST00000683270.1:c.6446-1739C= ENSP00000507624.1:n.6446-1739C=
ENST00000683367.1:c.2177-1739C= ENSP00000507780.1:n.2177-1739C=
ENST00000683489.1:c.2292-1271C= ENSP00000508403.1:n.2292-1271C=
ENST00000683680.1:c.2319-1271C= ENSP00000507223.1:n.2319-1271C=
ENST00000684163.1:c.2204-1739C= ENSP00000508262.1:n.2204-1739C=
ENST00000684196.1:n.4543-1739C=
ENST00000684325.1:c.2186-9549C= ENSP00000508121.1:n.2186-9549C=
ENST00000684385.1:c.2221-1739C= ENSP00000507855.1:n.2221-1739C=
ENST00000684497.1:c.2186-8579C= ENSP00000507057.1:n.2186-8579C=
ENST00000382292.9:c.12653C= MANE Select ENSP00000371729.3:p.Ser4218=
ENST00000423156.2:c.2186-1739C= ENSP00000390925.2:n.2186-1739C=
ENST00000455470.6:c.2432-1739C= ENSP00000406565.2:n.2432-1739C=
ENST00000382292.7:c.12653C= ENSP00000371729.3:p.Ser4218=
ENST00000382298.7:c.12653C= ENSP00000371735.3:p.Ser4218=
ENST00000402364.1:c.10403C= ENSP00000385844.1:p.Ser3468=
ENST00000423156.1:c.1058-1739C= ENSP00000390925.1:n.1058-1739C=
ENST00000455470.5:c.2130-1739C=
NM_001278055.1:c.12212C= NP_001264984.1:p.Ser4071=
NM_014363.5:c.12653C= NP_055178.3:p.Ser4218=
XM_005266338.1:c.12680C= XP_005266395.1:p.Ser4227=
XM_011535038.1:c.12704C= XP_011533340.1:p.Ser4235=
XM_011535039.1:c.12671C= XP_011533341.1:p.Ser4224=
XM_005266338.2:c.12680C= XP_005266395.1:p.Ser4227=
XM_011535039.2:c.12671C= XP_011533341.1:p.Ser4224=
XM_017020539.1:c.12644C= XP_016876028.1:p.Ser4215=
XM_024449337.1:c.12680C= XP_024305105.1:p.Ser4227=
NM_014363.6:c.12653C= MANE Select NP_055178.3:p.Ser4218=
NM_001278055.2:c.12212C= NP_001264984.1:p.Ser4071=