Canonical Allele Identifier: CA2078627748
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330279T= , CM000675.2:g.23330279T= GRCh38
NC_000013.10:g.23904418T= , CM000675.1:g.23904418T= GRCh37
NC_000013.9:g.22802418T= NCBI36
NG_012342.1:g.108424A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18164A= ENSP00000508399.1:n.2186-18164A=
ENST00000682944.1:c.13624A= ENSP00000507173.1:p.Ser4542=
ENST00000683210.1:c.2185+23506A= ENSP00000506739.1:n.2185+23506A=
ENST00000683270.1:c.6446-795A= ENSP00000507624.1:n.6446-795A=
ENST00000683367.1:c.2177-795A= ENSP00000507780.1:n.2177-795A=
ENST00000683489.1:c.2292-327A= ENSP00000508403.1:n.2292-327A=
ENST00000683680.1:c.2319-327A= ENSP00000507223.1:n.2319-327A=
ENST00000684163.1:c.2204-795A= ENSP00000508262.1:n.2204-795A=
ENST00000684196.1:n.4543-795A=
ENST00000684325.1:c.2186-8605A= ENSP00000508121.1:n.2186-8605A=
ENST00000684385.1:c.2221-795A= ENSP00000507855.1:n.2221-795A=
ENST00000684497.1:c.2186-7635A= ENSP00000507057.1:n.2186-7635A=
ENST00000382292.9:c.13597A= MANE Select ENSP00000371729.3:p.Ser4533=
ENST00000423156.2:c.2186-795A= ENSP00000390925.2:n.2186-795A=
ENST00000455470.6:c.2432-795A= ENSP00000406565.2:n.2432-795A=
ENST00000382292.7:c.13597A= ENSP00000371729.3:p.Ser4533=
ENST00000382298.7:c.13597A= ENSP00000371735.3:p.Ser4533=
ENST00000402364.1:c.11347A= ENSP00000385844.1:p.Ser3783=
ENST00000423156.1:c.1058-795A= ENSP00000390925.1:n.1058-795A=
ENST00000455470.5:c.2130-795A=
NM_001278055.1:c.13156A= NP_001264984.1:p.Ser4386=
NM_014363.5:c.13597A= NP_055178.3:p.Ser4533=
XM_005266338.1:c.13624A= XP_005266395.1:p.Ser4542=
XM_011535038.1:c.13648A= XP_011533340.1:p.Ser4550=
XM_011535039.1:c.13615A= XP_011533341.1:p.Ser4539=
XM_005266338.2:c.13624A= XP_005266395.1:p.Ser4542=
XM_011535039.2:c.13615A= XP_011533341.1:p.Ser4539=
XM_017020539.1:c.13588A= XP_016876028.1:p.Ser4530=
XM_024449337.1:c.13624A= XP_024305105.1:p.Ser4542=
NM_014363.6:c.13597A= MANE Select NP_055178.3:p.Ser4533=
NM_001278055.2:c.13156A= NP_001264984.1:p.Ser4386=