Canonical Allele Identifier: CA387551889
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448209
dbSNP Id: rs1461096954

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23358346T>C , CM000675.2:g.23358346T>C GRCh38
NC_000013.10:g.23932485T>C , CM000675.1:g.23932485T>C GRCh37
NC_000013.9:g.22830485T>C NCBI36
NG_012342.1:g.80357A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.593A>G ENSP00000508399.1:p.Tyr198Cys
ENST00000682944.1:c.593A>G ENSP00000507173.1:p.Tyr198Cys
ENST00000683154.1:n.731A>G
ENST00000683210.1:c.593A>G ENSP00000506739.1:p.Tyr198Cys
ENST00000683270.1:c.584A>G ENSP00000507624.1:p.Tyr195Cys
ENST00000683367.1:c.584A>G ENSP00000507780.1:p.Tyr195Cys
ENST00000683489.1:c.593A>G ENSP00000508403.1:p.Tyr198Cys
ENST00000683680.1:c.593A>G ENSP00000507223.1:p.Tyr198Cys
ENST00000684163.1:c.584A>G ENSP00000508262.1:p.Tyr195Cys
ENST00000684196.1:n.2950A>G
ENST00000684325.1:c.593A>G ENSP00000508121.1:p.Tyr198Cys
ENST00000684385.1:c.593A>G ENSP00000507855.1:p.Tyr198Cys
ENST00000684497.1:c.593A>G ENSP00000507057.1:p.Tyr198Cys
ENST00000382292.9:c.593A>G MANE Select ENSP00000371729.3:p.Tyr198Cys
ENST00000423156.2:c.593A>G ENSP00000390925.2:p.Tyr198Cys
ENST00000455470.6:c.593A>G ENSP00000406565.2:p.Tyr198Cys
ENST00000382292.7:c.593A>G ENSP00000371729.3:p.Tyr198Cys
ENST00000382298.7:c.593A>G ENSP00000371735.3:p.Tyr198Cys
ENST00000402364.1:c.-1658A>G ENSP00000385844.1:n.-1658A>G
ENST00000455470.5:c.291A>G
NM_001278055.1:c.152A>G NP_001264984.1:p.Tyr51Cys
NM_014363.5:c.593A>G NP_055178.3:p.Tyr198Cys
XM_005266338.1:c.593A>G XP_005266395.1:p.Tyr198Cys
XM_011535038.1:c.617A>G XP_011533340.1:p.Tyr206Cys
XM_011535039.1:c.584A>G XP_011533341.1:p.Tyr195Cys
XM_005266338.2:c.593A>G XP_005266395.1:p.Tyr198Cys
XM_011535039.2:c.584A>G XP_011533341.1:p.Tyr195Cys
XM_017020539.1:c.584A>G XP_016876028.1:p.Tyr195Cys
XM_024449337.1:c.593A>G XP_024305105.1:p.Tyr198Cys
NM_014363.6:c.593A>G MANE Select NP_055178.3:p.Tyr198Cys
NM_001278055.2:c.152A>G NP_001264984.1:p.Tyr51Cys