Canonical Allele Identifier: CA387505943
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs1201867800

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330753C>A , CM000675.2:g.23330753C>A GRCh38
NC_000013.10:g.23904892C>A , CM000675.1:g.23904892C>A GRCh37
NC_000013.9:g.22802892C>A NCBI36
NG_012342.1:g.107950G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18638G>T ENSP00000508399.1:n.2186-18638G>T
ENST00000682944.1:c.13150G>T ENSP00000507173.1:p.Ala4384Ser
ENST00000683210.1:c.2185+23032G>T ENSP00000506739.1:n.2185+23032G>T
ENST00000683270.1:c.6446-1269G>T ENSP00000507624.1:n.6446-1269G>T
ENST00000683367.1:c.2177-1269G>T ENSP00000507780.1:n.2177-1269G>T
ENST00000683489.1:c.2292-801G>T ENSP00000508403.1:n.2292-801G>T
ENST00000683680.1:c.2319-801G>T ENSP00000507223.1:n.2319-801G>T
ENST00000684163.1:c.2204-1269G>T ENSP00000508262.1:n.2204-1269G>T
ENST00000684196.1:n.4543-1269G>T
ENST00000684325.1:c.2186-9079G>T ENSP00000508121.1:n.2186-9079G>T
ENST00000684385.1:c.2221-1269G>T ENSP00000507855.1:n.2221-1269G>T
ENST00000684497.1:c.2186-8109G>T ENSP00000507057.1:n.2186-8109G>T
ENST00000382292.9:c.13123G>T MANE Select ENSP00000371729.3:p.Ala4375Ser
ENST00000423156.2:c.2186-1269G>T ENSP00000390925.2:n.2186-1269G>T
ENST00000455470.6:c.2432-1269G>T ENSP00000406565.2:n.2432-1269G>T
ENST00000382292.7:c.13123G>T ENSP00000371729.3:p.Ala4375Ser
ENST00000382298.7:c.13123G>T ENSP00000371735.3:p.Ala4375Ser
ENST00000402364.1:c.10873G>T ENSP00000385844.1:p.Ala3625Ser
ENST00000423156.1:c.1058-1269G>T ENSP00000390925.1:n.1058-1269G>T
ENST00000455470.5:c.2130-1269G>T
NM_001278055.1:c.12682G>T NP_001264984.1:p.Ala4228Ser
NM_014363.5:c.13123G>T NP_055178.3:p.Ala4375Ser
XM_005266338.1:c.13150G>T XP_005266395.1:p.Ala4384Ser
XM_011535038.1:c.13174G>T XP_011533340.1:p.Ala4392Ser
XM_011535039.1:c.13141G>T XP_011533341.1:p.Ala4381Ser
XM_005266338.2:c.13150G>T XP_005266395.1:p.Ala4384Ser
XM_011535039.2:c.13141G>T XP_011533341.1:p.Ala4381Ser
XM_017020539.1:c.13114G>T XP_016876028.1:p.Ala4372Ser
XM_024449337.1:c.13150G>T XP_024305105.1:p.Ala4384Ser
NM_014363.6:c.13123G>T MANE Select NP_055178.3:p.Ala4375Ser
NM_001278055.2:c.12682G>T NP_001264984.1:p.Ala4228Ser