Canonical Allele Identifier: CA6910450
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311512
dbSNP Id: rs144087359

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333433G>C , CM000675.2:g.23333433G>C GRCh38
NC_000013.10:g.23907572G>C , CM000675.1:g.23907572G>C GRCh37
NC_000013.9:g.22805572G>C NCBI36
NG_012342.1:g.105270C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20352C>G ENSP00000508399.1:n.2185+20352C>G
ENST00000682944.1:c.10470C>G ENSP00000507173.1:p.Leu3490=
ENST00000683210.1:c.2185+20352C>G ENSP00000506739.1:n.2185+20352C>G
ENST00000683270.1:c.6446-3949C>G ENSP00000507624.1:n.6446-3949C>G
ENST00000683367.1:c.2177-3949C>G ENSP00000507780.1:n.2177-3949C>G
ENST00000683489.1:c.2292-3481C>G ENSP00000508403.1:n.2292-3481C>G
ENST00000683680.1:c.2319-3481C>G ENSP00000507223.1:n.2319-3481C>G
ENST00000684163.1:c.2204-3949C>G ENSP00000508262.1:n.2204-3949C>G
ENST00000684196.1:n.4543-3949C>G
ENST00000684325.1:c.2186-11759C>G ENSP00000508121.1:n.2186-11759C>G
ENST00000684385.1:c.2221-3949C>G ENSP00000507855.1:n.2221-3949C>G
ENST00000684497.1:c.2186-10789C>G ENSP00000507057.1:n.2186-10789C>G
ENST00000382292.9:c.10443C>G MANE Select ENSP00000371729.3:p.Leu3481=
ENST00000423156.2:c.2186-3949C>G ENSP00000390925.2:n.2186-3949C>G
ENST00000455470.6:c.2432-3949C>G ENSP00000406565.2:n.2432-3949C>G
ENST00000382292.7:c.10443C>G ENSP00000371729.3:p.Leu3481=
ENST00000382298.7:c.10443C>G ENSP00000371735.3:p.Leu3481=
ENST00000402364.1:c.8193C>G ENSP00000385844.1:p.Leu2731=
ENST00000423156.1:c.1058-3949C>G ENSP00000390925.1:n.1058-3949C>G
ENST00000455470.5:c.2130-3949C>G
NM_001278055.1:c.10002C>G NP_001264984.1:p.Leu3334=
NM_014363.5:c.10443C>G NP_055178.3:p.Leu3481=
XM_005266338.1:c.10470C>G XP_005266395.1:p.Leu3490=
XM_011535038.1:c.10494C>G XP_011533340.1:p.Leu3498=
XM_011535039.1:c.10461C>G XP_011533341.1:p.Leu3487=
XM_005266338.2:c.10470C>G XP_005266395.1:p.Leu3490=
XM_011535039.2:c.10461C>G XP_011533341.1:p.Leu3487=
XM_017020539.1:c.10434C>G XP_016876028.1:p.Leu3478=
XM_024449337.1:c.10470C>G XP_024305105.1:p.Leu3490=
NM_014363.6:c.10443C>G MANE Select NP_055178.3:p.Leu3481=
NM_001278055.2:c.10002C>G NP_001264984.1:p.Leu3334=