Canonical Allele Identifier: CA387504864
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 496951
dbSNP Id: rs1555249106

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330261G>A , CM000675.2:g.23330261G>A GRCh38
NC_000013.10:g.23904400G>A , CM000675.1:g.23904400G>A GRCh37
NC_000013.9:g.22802400G>A NCBI36
NG_012342.1:g.108442C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18146C>T ENSP00000508399.1:n.2186-18146C>T
ENST00000682944.1:c.13642C>T ENSP00000507173.1:p.Pro4548Ser
ENST00000683210.1:c.2185+23524C>T ENSP00000506739.1:n.2185+23524C>T
ENST00000683270.1:c.6446-777C>T ENSP00000507624.1:n.6446-777C>T
ENST00000683367.1:c.2177-777C>T ENSP00000507780.1:n.2177-777C>T
ENST00000683489.1:c.2292-309C>T ENSP00000508403.1:n.2292-309C>T
ENST00000683680.1:c.2319-309C>T ENSP00000507223.1:n.2319-309C>T
ENST00000684163.1:c.2204-777C>T ENSP00000508262.1:n.2204-777C>T
ENST00000684196.1:n.4543-777C>T
ENST00000684325.1:c.2186-8587C>T ENSP00000508121.1:n.2186-8587C>T
ENST00000684385.1:c.2221-777C>T ENSP00000507855.1:n.2221-777C>T
ENST00000684497.1:c.2186-7617C>T ENSP00000507057.1:n.2186-7617C>T
ENST00000382292.9:c.13615C>T MANE Select ENSP00000371729.3:p.Pro4539Ser
ENST00000423156.2:c.2186-777C>T ENSP00000390925.2:n.2186-777C>T
ENST00000455470.6:c.2432-777C>T ENSP00000406565.2:n.2432-777C>T
ENST00000382292.7:c.13615C>T ENSP00000371729.3:p.Pro4539Ser
ENST00000382298.7:c.13615C>T ENSP00000371735.3:p.Pro4539Ser
ENST00000402364.1:c.11365C>T ENSP00000385844.1:p.Pro3789Ser
ENST00000423156.1:c.1058-777C>T ENSP00000390925.1:n.1058-777C>T
ENST00000455470.5:c.2130-777C>T
NM_001278055.1:c.13174C>T NP_001264984.1:p.Pro4392Ser
NM_014363.5:c.13615C>T NP_055178.3:p.Pro4539Ser
XM_005266338.1:c.13642C>T XP_005266395.1:p.Pro4548Ser
XM_011535038.1:c.13666C>T XP_011533340.1:p.Pro4556Ser
XM_011535039.1:c.13633C>T XP_011533341.1:p.Pro4545Ser
XM_005266338.2:c.13642C>T XP_005266395.1:p.Pro4548Ser
XM_011535039.2:c.13633C>T XP_011533341.1:p.Pro4545Ser
XM_017020539.1:c.13606C>T XP_016876028.1:p.Pro4536Ser
XM_024449337.1:c.13642C>T XP_024305105.1:p.Pro4548Ser
NM_014363.6:c.13615C>T MANE Select NP_055178.3:p.Pro4539Ser
NM_001278055.2:c.13174C>T NP_001264984.1:p.Pro4392Ser