Canonical Allele Identifier: CA387521492
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs142530357

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337334G>C , CM000675.2:g.23337334G>C GRCh38
NC_000013.10:g.23911473G>C , CM000675.1:g.23911473G>C GRCh37
NC_000013.9:g.22809473G>C NCBI36
NG_012342.1:g.101369C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+16451C>G ENSP00000508399.1:n.2185+16451C>G
ENST00000682944.1:c.6569C>G ENSP00000507173.1:p.Ala2190Gly
ENST00000683210.1:c.2185+16451C>G ENSP00000506739.1:n.2185+16451C>G
ENST00000683270.1:c.6445+88C>G ENSP00000507624.1:n.6445+88C>G
ENST00000683367.1:c.2177-7850C>G ENSP00000507780.1:n.2177-7850C>G
ENST00000683489.1:c.2291+4251C>G ENSP00000508403.1:n.2291+4251C>G
ENST00000683680.1:c.2318+4251C>G ENSP00000507223.1:n.2318+4251C>G
ENST00000684163.1:c.2204-7850C>G ENSP00000508262.1:n.2204-7850C>G
ENST00000684196.1:n.4543-7850C>G
ENST00000684325.1:c.2186-15660C>G ENSP00000508121.1:n.2186-15660C>G
ENST00000684385.1:c.2221-7850C>G ENSP00000507855.1:n.2221-7850C>G
ENST00000684497.1:c.2186-14690C>G ENSP00000507057.1:n.2186-14690C>G
ENST00000382292.9:c.6542C>G MANE Select ENSP00000371729.3:p.Ala2181Gly
ENST00000423156.2:c.2186-7850C>G ENSP00000390925.2:n.2186-7850C>G
ENST00000455470.6:c.2431+4111C>G ENSP00000406565.2:n.2431+4111C>G
ENST00000382292.7:c.6542C>G ENSP00000371729.3:p.Ala2181Gly
ENST00000382298.7:c.6542C>G ENSP00000371735.3:p.Ala2181Gly
ENST00000402364.1:c.4292C>G ENSP00000385844.1:p.Ala1431Gly
ENST00000423156.1:c.1058-7850C>G ENSP00000390925.1:n.1058-7850C>G
ENST00000455470.5:c.2129+4111C>G
NM_001278055.1:c.6101C>G NP_001264984.1:p.Ala2034Gly
NM_014363.5:c.6542C>G NP_055178.3:p.Ala2181Gly
XM_005266338.1:c.6569C>G XP_005266395.1:p.Ala2190Gly
XM_011535038.1:c.6593C>G XP_011533340.1:p.Ala2198Gly
XM_011535039.1:c.6560C>G XP_011533341.1:p.Ala2187Gly
XM_005266338.2:c.6569C>G XP_005266395.1:p.Ala2190Gly
XM_011535039.2:c.6560C>G XP_011533341.1:p.Ala2187Gly
XM_017020539.1:c.6533C>G XP_016876028.1:p.Ala2178Gly
XM_024449337.1:c.6569C>G XP_024305105.1:p.Ala2190Gly
NM_014363.6:c.6542C>G MANE Select NP_055178.3:p.Ala2181Gly
NM_001278055.2:c.6101C>G NP_001264984.1:p.Ala2034Gly