Canonical Allele Identifier: CA6911858
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1132189
ClinVar RCV Id: RCV001466352
dbSNP Id: rs757746157

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23354881G>C , CM000675.2:g.23354881G>C GRCh38
NC_000013.10:g.23929020G>C , CM000675.1:g.23929020G>C GRCh37
NC_000013.9:g.22827020G>C NCBI36
NG_012342.1:g.83822C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.1731C>G ENSP00000508399.1:p.Phe577Leu
ENST00000682944.1:c.1731C>G ENSP00000507173.1:p.Phe577Leu
ENST00000683154.1:n.1869C>G
ENST00000683210.1:c.1731C>G ENSP00000506739.1:p.Phe577Leu
ENST00000683270.1:c.1722C>G ENSP00000507624.1:p.Phe574Leu
ENST00000683367.1:c.1722C>G ENSP00000507780.1:p.Phe574Leu
ENST00000683489.1:c.1731C>G ENSP00000508403.1:p.Phe577Leu
ENST00000683680.1:c.1731C>G ENSP00000507223.1:p.Phe577Leu
ENST00000684163.1:c.1722C>G ENSP00000508262.1:p.Phe574Leu
ENST00000684196.1:n.4088C>G
ENST00000684325.1:c.1731C>G ENSP00000508121.1:p.Phe577Leu
ENST00000684385.1:c.1731C>G ENSP00000507855.1:p.Phe577Leu
ENST00000684497.1:c.1731C>G ENSP00000507057.1:p.Phe577Leu
ENST00000382292.9:c.1731C>G MANE Select ENSP00000371729.3:p.Phe577Leu
ENST00000423156.2:c.1731C>G ENSP00000390925.2:p.Phe577Leu
ENST00000455470.6:c.1731C>G ENSP00000406565.2:p.Phe577Leu
ENST00000382292.7:c.1731C>G ENSP00000371729.3:p.Phe577Leu
ENST00000382298.7:c.1731C>G ENSP00000371735.3:p.Phe577Leu
ENST00000402364.1:c.-520C>G ENSP00000385844.1:n.-520C>G
ENST00000423156.1:c.603C>G ENSP00000390925.1:p.Phe201Leu
ENST00000455470.5:c.1429C>G
ENST00000476776.1:n.10C>G
NM_001278055.1:c.1290C>G NP_001264984.1:p.Phe430Leu
NM_014363.5:c.1731C>G NP_055178.3:p.Phe577Leu
XM_005266338.1:c.1731C>G XP_005266395.1:p.Phe577Leu
XM_011535038.1:c.1755C>G XP_011533340.1:p.Phe585Leu
XM_011535039.1:c.1722C>G XP_011533341.1:p.Phe574Leu
XM_005266338.2:c.1731C>G XP_005266395.1:p.Phe577Leu
XM_011535039.2:c.1722C>G XP_011533341.1:p.Phe574Leu
XM_017020539.1:c.1722C>G XP_016876028.1:p.Phe574Leu
XM_024449337.1:c.1731C>G XP_024305105.1:p.Phe577Leu
NM_014363.6:c.1731C>G MANE Select NP_055178.3:p.Phe577Leu
NM_001278055.2:c.1290C>G NP_001264984.1:p.Phe430Leu