Canonical Allele Identifier: CA387532377
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339743G>T , CM000675.2:g.23339743G>T GRCh38
NC_000013.10:g.23913882G>T , CM000675.1:g.23913882G>T GRCh37
NC_000013.9:g.22811882G>T NCBI36
NG_012342.1:g.98960C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+14042C>A ENSP00000508399.1:n.2185+14042C>A
ENST00000682944.1:c.4160C>A ENSP00000507173.1:p.Pro1387Gln
ENST00000683210.1:c.2185+14042C>A ENSP00000506739.1:n.2185+14042C>A
ENST00000683270.1:c.4124C>A ENSP00000507624.1:p.Pro1375Gln
ENST00000683367.1:c.2177-10259C>A ENSP00000507780.1:n.2177-10259C>A
ENST00000683489.1:c.2291+1842C>A ENSP00000508403.1:n.2291+1842C>A
ENST00000683680.1:c.2318+1842C>A ENSP00000507223.1:n.2318+1842C>A
ENST00000684163.1:c.2203+7068C>A ENSP00000508262.1:n.2203+7068C>A
ENST00000684196.1:n.4543-10259C>A
ENST00000684325.1:c.2185+14042C>A ENSP00000508121.1:n.2185+14042C>A
ENST00000684385.1:c.2220+7068C>A ENSP00000507855.1:n.2220+7068C>A
ENST00000684497.1:c.2185+14042C>A ENSP00000507057.1:n.2185+14042C>A
ENST00000382292.9:c.4133C>A MANE Select ENSP00000371729.3:p.Pro1378Gln
ENST00000423156.2:c.2186-10259C>A ENSP00000390925.2:n.2186-10259C>A
ENST00000455470.6:c.2431+1702C>A ENSP00000406565.2:n.2431+1702C>A
ENST00000382292.7:c.4133C>A ENSP00000371729.3:p.Pro1378Gln
ENST00000382298.7:c.4133C>A ENSP00000371735.3:p.Pro1378Gln
ENST00000402364.1:c.1883C>A ENSP00000385844.1:p.Pro628Gln
ENST00000423156.1:c.1058-10259C>A ENSP00000390925.1:n.1058-10259C>A
ENST00000455470.5:c.2129+1702C>A
NM_001278055.1:c.3692C>A NP_001264984.1:p.Pro1231Gln
NM_014363.5:c.4133C>A NP_055178.3:p.Pro1378Gln
XM_005266338.1:c.4160C>A XP_005266395.1:p.Pro1387Gln
XM_011535038.1:c.4184C>A XP_011533340.1:p.Pro1395Gln
XM_011535039.1:c.4151C>A XP_011533341.1:p.Pro1384Gln
XM_005266338.2:c.4160C>A XP_005266395.1:p.Pro1387Gln
XM_011535039.2:c.4151C>A XP_011533341.1:p.Pro1384Gln
XM_017020539.1:c.4124C>A XP_016876028.1:p.Pro1375Gln
XM_024449337.1:c.4160C>A XP_024305105.1:p.Pro1387Gln
NM_014363.6:c.4133C>A MANE Select NP_055178.3:p.Pro1378Gln
NM_001278055.2:c.3692C>A NP_001264984.1:p.Pro1231Gln