Canonical Allele Identifier: CA6911184
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2041229
ClinVar RCV Id: RCV002912934
dbSNP Id: rs780501659

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338019G>A , CM000675.2:g.23338019G>A GRCh38
NC_000013.10:g.23912158G>A , CM000675.1:g.23912158G>A GRCh37
NC_000013.9:g.22810158G>A NCBI36
NG_012342.1:g.100684C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+15766C>T ENSP00000508399.1:n.2185+15766C>T
ENST00000682944.1:c.5884C>T ENSP00000507173.1:p.His1962Tyr
ENST00000683210.1:c.2185+15766C>T ENSP00000506739.1:n.2185+15766C>T
ENST00000683270.1:c.5848C>T ENSP00000507624.1:p.His1950Tyr
ENST00000683367.1:c.2177-8535C>T ENSP00000507780.1:n.2177-8535C>T
ENST00000683489.1:c.2291+3566C>T ENSP00000508403.1:n.2291+3566C>T
ENST00000683680.1:c.2318+3566C>T ENSP00000507223.1:n.2318+3566C>T
ENST00000684163.1:c.2204-8535C>T ENSP00000508262.1:n.2204-8535C>T
ENST00000684196.1:n.4543-8535C>T
ENST00000684325.1:c.2185+15766C>T ENSP00000508121.1:n.2185+15766C>T
ENST00000684385.1:c.2221-8535C>T ENSP00000507855.1:n.2221-8535C>T
ENST00000684497.1:c.2186-15375C>T ENSP00000507057.1:n.2186-15375C>T
ENST00000382292.9:c.5857C>T MANE Select ENSP00000371729.3:p.His1953Tyr
ENST00000423156.2:c.2186-8535C>T ENSP00000390925.2:n.2186-8535C>T
ENST00000455470.6:c.2431+3426C>T ENSP00000406565.2:n.2431+3426C>T
ENST00000382292.7:c.5857C>T ENSP00000371729.3:p.His1953Tyr
ENST00000382298.7:c.5857C>T ENSP00000371735.3:p.His1953Tyr
ENST00000402364.1:c.3607C>T ENSP00000385844.1:p.His1203Tyr
ENST00000423156.1:c.1058-8535C>T ENSP00000390925.1:n.1058-8535C>T
ENST00000455470.5:c.2129+3426C>T
NM_001278055.1:c.5416C>T NP_001264984.1:p.His1806Tyr
NM_014363.5:c.5857C>T NP_055178.3:p.His1953Tyr
XM_005266338.1:c.5884C>T XP_005266395.1:p.His1962Tyr
XM_011535038.1:c.5908C>T XP_011533340.1:p.His1970Tyr
XM_011535039.1:c.5875C>T XP_011533341.1:p.His1959Tyr
XM_005266338.2:c.5884C>T XP_005266395.1:p.His1962Tyr
XM_011535039.2:c.5875C>T XP_011533341.1:p.His1959Tyr
XM_017020539.1:c.5848C>T XP_016876028.1:p.His1950Tyr
XM_024449337.1:c.5884C>T XP_024305105.1:p.His1962Tyr
NM_014363.6:c.5857C>T MANE Select NP_055178.3:p.His1953Tyr
NM_001278055.2:c.5416C>T NP_001264984.1:p.His1806Tyr