Canonical Allele Identifier: CA6911914
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 549951
ClinVar RCV Id: RCV000664537
dbSNP Id: rs746704660

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23355192G>A , CM000675.2:g.23355192G>A GRCh38
NC_000013.10:g.23929331G>A , CM000675.1:g.23929331G>A GRCh37
NC_000013.9:g.22827331G>A NCBI36
NG_012342.1:g.83511C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.1420C>T ENSP00000508399.1:p.Arg474Cys
ENST00000682944.1:c.1420C>T ENSP00000507173.1:p.Arg474Cys
ENST00000683154.1:n.1558C>T
ENST00000683210.1:c.1420C>T ENSP00000506739.1:p.Arg474Cys
ENST00000683270.1:c.1411C>T ENSP00000507624.1:p.Arg471Cys
ENST00000683367.1:c.1411C>T ENSP00000507780.1:p.Arg471Cys
ENST00000683489.1:c.1420C>T ENSP00000508403.1:p.Arg474Cys
ENST00000683680.1:c.1420C>T ENSP00000507223.1:p.Arg474Cys
ENST00000684163.1:c.1411C>T ENSP00000508262.1:p.Arg471Cys
ENST00000684196.1:n.3777C>T
ENST00000684325.1:c.1420C>T ENSP00000508121.1:p.Arg474Cys
ENST00000684385.1:c.1420C>T ENSP00000507855.1:p.Arg474Cys
ENST00000684497.1:c.1420C>T ENSP00000507057.1:p.Arg474Cys
ENST00000382292.9:c.1420C>T MANE Select ENSP00000371729.3:p.Arg474Cys
ENST00000423156.2:c.1420C>T ENSP00000390925.2:p.Arg474Cys
ENST00000455470.6:c.1420C>T ENSP00000406565.2:p.Arg474Cys
ENST00000382292.7:c.1420C>T ENSP00000371729.3:p.Arg474Cys
ENST00000382298.7:c.1420C>T ENSP00000371735.3:p.Arg474Cys
ENST00000402364.1:c.-831C>T ENSP00000385844.1:n.-831C>T
ENST00000423156.1:c.292C>T ENSP00000390925.1:p.Arg98Cys
ENST00000455470.5:c.1118C>T
NM_001278055.1:c.979C>T NP_001264984.1:p.Arg327Cys
NM_014363.5:c.1420C>T NP_055178.3:p.Arg474Cys
XM_005266338.1:c.1420C>T XP_005266395.1:p.Arg474Cys
XM_011535038.1:c.1444C>T XP_011533340.1:p.Arg482Cys
XM_011535039.1:c.1411C>T XP_011533341.1:p.Arg471Cys
XM_005266338.2:c.1420C>T XP_005266395.1:p.Arg474Cys
XM_011535039.2:c.1411C>T XP_011533341.1:p.Arg471Cys
XM_017020539.1:c.1411C>T XP_016876028.1:p.Arg471Cys
XM_024449337.1:c.1420C>T XP_024305105.1:p.Arg474Cys
NM_014363.6:c.1420C>T MANE Select NP_055178.3:p.Arg474Cys
NM_001278055.2:c.979C>T NP_001264984.1:p.Arg327Cys