Canonical Allele Identifier: CA16041647
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371646
ClinVar RCV Id: RCV000409346
dbSNP Id: rs1057517437

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341546G>T , CM000675.2:g.23341546G>T GRCh38
NC_000013.10:g.23915685G>T , CM000675.1:g.23915685G>T GRCh37
NC_000013.9:g.22813685G>T NCBI36
NG_012342.1:g.97157C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+12239C>A ENSP00000508399.1:n.2185+12239C>A
ENST00000682944.1:c.2357C>A ENSP00000507173.1:p.Ser786Ter
ENST00000683210.1:c.2185+12239C>A ENSP00000506739.1:n.2185+12239C>A
ENST00000683270.1:c.2321C>A ENSP00000507624.1:p.Ser774Ter
ENST00000683367.1:c.2177-12062C>A ENSP00000507780.1:n.2177-12062C>A
ENST00000683489.1:c.2291+39C>A ENSP00000508403.1:n.2291+39C>A
ENST00000683680.1:c.2318+39C>A ENSP00000507223.1:n.2318+39C>A
ENST00000684163.1:c.2203+5265C>A ENSP00000508262.1:n.2203+5265C>A
ENST00000684196.1:n.4543-12062C>A
ENST00000684325.1:c.2185+12239C>A ENSP00000508121.1:n.2185+12239C>A
ENST00000684385.1:c.2220+5265C>A ENSP00000507855.1:n.2220+5265C>A
ENST00000684497.1:c.2185+12239C>A ENSP00000507057.1:n.2185+12239C>A
ENST00000382292.9:c.2330C>A MANE Select ENSP00000371729.3:p.Ser777Ter
ENST00000423156.2:c.2186-12062C>A ENSP00000390925.2:n.2186-12062C>A
ENST00000455470.6:c.2330C>A ENSP00000406565.2:p.Ser777Ter
ENST00000382292.7:c.2330C>A ENSP00000371729.3:p.Ser777Ter
ENST00000382298.7:c.2330C>A ENSP00000371735.3:p.Ser777Ter
ENST00000402364.1:c.80C>A ENSP00000385844.1:p.Ser27Ter
ENST00000423156.1:c.1058-12062C>A ENSP00000390925.1:n.1058-12062C>A
ENST00000455470.5:c.2028C>A
NM_001278055.1:c.1889C>A NP_001264984.1:p.Ser630Ter
NM_014363.5:c.2330C>A NP_055178.3:p.Ser777Ter
XM_005266338.1:c.2357C>A XP_005266395.1:p.Ser786Ter
XM_011535038.1:c.2381C>A XP_011533340.1:p.Ser794Ter
XM_011535039.1:c.2348C>A XP_011533341.1:p.Ser783Ter
XM_005266338.2:c.2357C>A XP_005266395.1:p.Ser786Ter
XM_011535039.2:c.2348C>A XP_011533341.1:p.Ser783Ter
XM_017020539.1:c.2321C>A XP_016876028.1:p.Ser774Ter
XM_024449337.1:c.2357C>A XP_024305105.1:p.Ser786Ter
NM_014363.6:c.2330C>A MANE Select NP_055178.3:p.Ser777Ter
NM_001278055.2:c.1889C>A NP_001264984.1:p.Ser630Ter