Canonical Allele Identifier: CA6910956
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 739153
dbSNP Id: rs768013904

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336694T>C , CM000675.2:g.23336694T>C GRCh38
NC_000013.10:g.23910833T>C , CM000675.1:g.23910833T>C GRCh37
NC_000013.9:g.22808833T>C NCBI36
NG_012342.1:g.102009A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17091A>G ENSP00000508399.1:n.2185+17091A>G
ENST00000682944.1:c.7209A>G ENSP00000507173.1:p.Ser2403=
ENST00000683210.1:c.2185+17091A>G ENSP00000506739.1:n.2185+17091A>G
ENST00000683270.1:c.6445+728A>G ENSP00000507624.1:n.6445+728A>G
ENST00000683367.1:c.2177-7210A>G ENSP00000507780.1:n.2177-7210A>G
ENST00000683489.1:c.2291+4891A>G ENSP00000508403.1:n.2291+4891A>G
ENST00000683680.1:c.2318+4891A>G ENSP00000507223.1:n.2318+4891A>G
ENST00000684163.1:c.2204-7210A>G ENSP00000508262.1:n.2204-7210A>G
ENST00000684196.1:n.4543-7210A>G
ENST00000684325.1:c.2186-15020A>G ENSP00000508121.1:n.2186-15020A>G
ENST00000684385.1:c.2221-7210A>G ENSP00000507855.1:n.2221-7210A>G
ENST00000684497.1:c.2186-14050A>G ENSP00000507057.1:n.2186-14050A>G
ENST00000382292.9:c.7182A>G MANE Select ENSP00000371729.3:p.Ser2394=
ENST00000423156.2:c.2186-7210A>G ENSP00000390925.2:n.2186-7210A>G
ENST00000455470.6:c.2431+4751A>G ENSP00000406565.2:n.2431+4751A>G
ENST00000382292.7:c.7182A>G ENSP00000371729.3:p.Ser2394=
ENST00000382298.7:c.7182A>G ENSP00000371735.3:p.Ser2394=
ENST00000402364.1:c.4932A>G ENSP00000385844.1:p.Ser1644=
ENST00000423156.1:c.1058-7210A>G ENSP00000390925.1:n.1058-7210A>G
ENST00000455470.5:c.2129+4751A>G
NM_001278055.1:c.6741A>G NP_001264984.1:p.Ser2247=
NM_014363.5:c.7182A>G NP_055178.3:p.Ser2394=
XM_005266338.1:c.7209A>G XP_005266395.1:p.Ser2403=
XM_011535038.1:c.7233A>G XP_011533340.1:p.Ser2411=
XM_011535039.1:c.7200A>G XP_011533341.1:p.Ser2400=
XM_005266338.2:c.7209A>G XP_005266395.1:p.Ser2403=
XM_011535039.2:c.7200A>G XP_011533341.1:p.Ser2400=
XM_017020539.1:c.7173A>G XP_016876028.1:p.Ser2391=
XM_024449337.1:c.7209A>G XP_024305105.1:p.Ser2403=
NM_014363.6:c.7182A>G MANE Select NP_055178.3:p.Ser2394=
NM_001278055.2:c.6741A>G NP_001264984.1:p.Ser2247=