Canonical Allele Identifier: CA233202
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 156343
dbSNP Id: rs199474695

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23365209G>C , CM000675.2:g.23365209G>C GRCh38
NC_000013.10:g.23939348G>C , CM000675.1:g.23939348G>C GRCh37
NC_000013.9:g.22837348G>C NCBI36
NG_012342.1:g.73494C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682244.1:n.987C>G
ENST00000682354.1:n.1179C>G
ENST00000682775.1:c.414C>G ENSP00000508399.1:p.Tyr138Ter
ENST00000682944.1:c.414C>G ENSP00000507173.1:p.Tyr138Ter
ENST00000683154.1:n.552C>G
ENST00000683210.1:c.414C>G ENSP00000506739.1:p.Tyr138Ter
ENST00000683270.1:c.405C>G ENSP00000507624.1:p.Tyr135Ter
ENST00000683367.1:c.405C>G ENSP00000507780.1:p.Tyr135Ter
ENST00000683489.1:c.414C>G ENSP00000508403.1:p.Tyr138Ter
ENST00000683680.1:c.414C>G ENSP00000507223.1:p.Tyr138Ter
ENST00000684053.1:n.531C>G
ENST00000684163.1:c.405C>G ENSP00000508262.1:p.Tyr135Ter
ENST00000684196.1:n.2771C>G
ENST00000684325.1:c.414C>G ENSP00000508121.1:p.Tyr138Ter
ENST00000684385.1:c.414C>G ENSP00000507855.1:p.Tyr138Ter
ENST00000684497.1:c.414C>G ENSP00000507057.1:p.Tyr138Ter
ENST00000382292.9:c.414C>G MANE Select ENSP00000371729.3:p.Tyr138Ter
ENST00000423156.2:c.414C>G ENSP00000390925.2:p.Tyr138Ter
ENST00000455470.6:c.414C>G ENSP00000406565.2:p.Tyr138Ter
ENST00000382292.7:c.414C>G ENSP00000371729.3:p.Tyr138Ter
ENST00000382298.7:c.414C>G ENSP00000371735.3:p.Tyr138Ter
ENST00000402364.1:c.-1837C>G ENSP00000385844.1:n.-1837C>G
ENST00000455470.5:c.112C>G
NM_001278055.1:c.-28C>G NP_001264984.1:n.-28C>G
NM_014363.5:c.414C>G NP_055178.3:p.Tyr138Ter
XM_005266338.1:c.414C>G XP_005266395.1:p.Tyr138Ter
XM_011535038.1:c.438C>G XP_011533340.1:p.Tyr146Ter
XM_011535039.1:c.405C>G XP_011533341.1:p.Tyr135Ter
XM_005266338.2:c.414C>G XP_005266395.1:p.Tyr138Ter
XM_011535039.2:c.405C>G XP_011533341.1:p.Tyr135Ter
XM_017020539.1:c.405C>G XP_016876028.1:p.Tyr135Ter
XM_024449337.1:c.414C>G XP_024305105.1:p.Tyr138Ter
NM_014363.6:c.414C>G MANE Select NP_055178.3:p.Tyr138Ter
NM_001278055.2:c.-28C>G NP_001264984.1:n.-28C>G