Canonical Allele Identifier: CA387510980
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332884A>C , CM000675.2:g.23332884A>C GRCh38
NC_000013.10:g.23907023A>C , CM000675.1:g.23907023A>C GRCh37
NC_000013.9:g.22805023A>C NCBI36
NG_012342.1:g.105819T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-20769T>G ENSP00000508399.1:n.2186-20769T>G
ENST00000682944.1:c.11019T>G ENSP00000507173.1:p.Ile3673Met
ENST00000683210.1:c.2185+20901T>G ENSP00000506739.1:n.2185+20901T>G
ENST00000683270.1:c.6446-3400T>G ENSP00000507624.1:n.6446-3400T>G
ENST00000683367.1:c.2177-3400T>G ENSP00000507780.1:n.2177-3400T>G
ENST00000683489.1:c.2292-2932T>G ENSP00000508403.1:n.2292-2932T>G
ENST00000683680.1:c.2319-2932T>G ENSP00000507223.1:n.2319-2932T>G
ENST00000684163.1:c.2204-3400T>G ENSP00000508262.1:n.2204-3400T>G
ENST00000684196.1:n.4543-3400T>G
ENST00000684325.1:c.2186-11210T>G ENSP00000508121.1:n.2186-11210T>G
ENST00000684385.1:c.2221-3400T>G ENSP00000507855.1:n.2221-3400T>G
ENST00000684497.1:c.2186-10240T>G ENSP00000507057.1:n.2186-10240T>G
ENST00000382292.9:c.10992T>G MANE Select ENSP00000371729.3:p.Ile3664Met
ENST00000423156.2:c.2186-3400T>G ENSP00000390925.2:n.2186-3400T>G
ENST00000455470.6:c.2432-3400T>G ENSP00000406565.2:n.2432-3400T>G
ENST00000382292.7:c.10992T>G ENSP00000371729.3:p.Ile3664Met
ENST00000382298.7:c.10992T>G ENSP00000371735.3:p.Ile3664Met
ENST00000402364.1:c.8742T>G ENSP00000385844.1:p.Ile2914Met
ENST00000423156.1:c.1058-3400T>G ENSP00000390925.1:n.1058-3400T>G
ENST00000455470.5:c.2130-3400T>G
NM_001278055.1:c.10551T>G NP_001264984.1:p.Ile3517Met
NM_014363.5:c.10992T>G NP_055178.3:p.Ile3664Met
XM_005266338.1:c.11019T>G XP_005266395.1:p.Ile3673Met
XM_011535038.1:c.11043T>G XP_011533340.1:p.Ile3681Met
XM_011535039.1:c.11010T>G XP_011533341.1:p.Ile3670Met
XM_005266338.2:c.11019T>G XP_005266395.1:p.Ile3673Met
XM_011535039.2:c.11010T>G XP_011533341.1:p.Ile3670Met
XM_017020539.1:c.10983T>G XP_016876028.1:p.Ile3661Met
XM_024449337.1:c.11019T>G XP_024305105.1:p.Ile3673Met
NM_014363.6:c.10992T>G MANE Select NP_055178.3:p.Ile3664Met
NM_001278055.2:c.10551T>G NP_001264984.1:p.Ile3517Met