Canonical Allele Identifier: CA6911183
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2074884
ClinVar RCV Id: RCV002963117
dbSNP Id: rs756605162

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338012T>C , CM000675.2:g.23338012T>C GRCh38
NC_000013.10:g.23912151T>C , CM000675.1:g.23912151T>C GRCh37
NC_000013.9:g.22810151T>C NCBI36
NG_012342.1:g.100691A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+15773A>G ENSP00000508399.1:n.2185+15773A>G
ENST00000682944.1:c.5891A>G ENSP00000507173.1:p.Asp1964Gly
ENST00000683210.1:c.2185+15773A>G ENSP00000506739.1:n.2185+15773A>G
ENST00000683270.1:c.5855A>G ENSP00000507624.1:p.Asp1952Gly
ENST00000683367.1:c.2177-8528A>G ENSP00000507780.1:n.2177-8528A>G
ENST00000683489.1:c.2291+3573A>G ENSP00000508403.1:n.2291+3573A>G
ENST00000683680.1:c.2318+3573A>G ENSP00000507223.1:n.2318+3573A>G
ENST00000684163.1:c.2204-8528A>G ENSP00000508262.1:n.2204-8528A>G
ENST00000684196.1:n.4543-8528A>G
ENST00000684325.1:c.2185+15773A>G ENSP00000508121.1:n.2185+15773A>G
ENST00000684385.1:c.2221-8528A>G ENSP00000507855.1:n.2221-8528A>G
ENST00000684497.1:c.2186-15368A>G ENSP00000507057.1:n.2186-15368A>G
ENST00000382292.9:c.5864A>G MANE Select ENSP00000371729.3:p.Asp1955Gly
ENST00000423156.2:c.2186-8528A>G ENSP00000390925.2:n.2186-8528A>G
ENST00000455470.6:c.2431+3433A>G ENSP00000406565.2:n.2431+3433A>G
ENST00000382292.7:c.5864A>G ENSP00000371729.3:p.Asp1955Gly
ENST00000382298.7:c.5864A>G ENSP00000371735.3:p.Asp1955Gly
ENST00000402364.1:c.3614A>G ENSP00000385844.1:p.Asp1205Gly
ENST00000423156.1:c.1058-8528A>G ENSP00000390925.1:n.1058-8528A>G
ENST00000455470.5:c.2129+3433A>G
NM_001278055.1:c.5423A>G NP_001264984.1:p.Asp1808Gly
NM_014363.5:c.5864A>G NP_055178.3:p.Asp1955Gly
XM_005266338.1:c.5891A>G XP_005266395.1:p.Asp1964Gly
XM_011535038.1:c.5915A>G XP_011533340.1:p.Asp1972Gly
XM_011535039.1:c.5882A>G XP_011533341.1:p.Asp1961Gly
XM_005266338.2:c.5891A>G XP_005266395.1:p.Asp1964Gly
XM_011535039.2:c.5882A>G XP_011533341.1:p.Asp1961Gly
XM_017020539.1:c.5855A>G XP_016876028.1:p.Asp1952Gly
XM_024449337.1:c.5891A>G XP_024305105.1:p.Asp1964Gly
NM_014363.6:c.5864A>G MANE Select NP_055178.3:p.Asp1955Gly
NM_001278055.2:c.5423A>G NP_001264984.1:p.Asp1808Gly