Canonical Allele Identifier: CA387532380
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs976181139

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339744G>A , CM000675.2:g.23339744G>A GRCh38
NC_000013.10:g.23913883G>A , CM000675.1:g.23913883G>A GRCh37
NC_000013.9:g.22811883G>A NCBI36
NG_012342.1:g.98959C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+14041C>T ENSP00000508399.1:n.2185+14041C>T
ENST00000682944.1:c.4159C>T ENSP00000507173.1:p.Pro1387Ser
ENST00000683210.1:c.2185+14041C>T ENSP00000506739.1:n.2185+14041C>T
ENST00000683270.1:c.4123C>T ENSP00000507624.1:p.Pro1375Ser
ENST00000683367.1:c.2177-10260C>T ENSP00000507780.1:n.2177-10260C>T
ENST00000683489.1:c.2291+1841C>T ENSP00000508403.1:n.2291+1841C>T
ENST00000683680.1:c.2318+1841C>T ENSP00000507223.1:n.2318+1841C>T
ENST00000684163.1:c.2203+7067C>T ENSP00000508262.1:n.2203+7067C>T
ENST00000684196.1:n.4543-10260C>T
ENST00000684325.1:c.2185+14041C>T ENSP00000508121.1:n.2185+14041C>T
ENST00000684385.1:c.2220+7067C>T ENSP00000507855.1:n.2220+7067C>T
ENST00000684497.1:c.2185+14041C>T ENSP00000507057.1:n.2185+14041C>T
ENST00000382292.9:c.4132C>T MANE Select ENSP00000371729.3:p.Pro1378Ser
ENST00000423156.2:c.2186-10260C>T ENSP00000390925.2:n.2186-10260C>T
ENST00000455470.6:c.2431+1701C>T ENSP00000406565.2:n.2431+1701C>T
ENST00000382292.7:c.4132C>T ENSP00000371729.3:p.Pro1378Ser
ENST00000382298.7:c.4132C>T ENSP00000371735.3:p.Pro1378Ser
ENST00000402364.1:c.1882C>T ENSP00000385844.1:p.Pro628Ser
ENST00000423156.1:c.1058-10260C>T ENSP00000390925.1:n.1058-10260C>T
ENST00000455470.5:c.2129+1701C>T
NM_001278055.1:c.3691C>T NP_001264984.1:p.Pro1231Ser
NM_014363.5:c.4132C>T NP_055178.3:p.Pro1378Ser
XM_005266338.1:c.4159C>T XP_005266395.1:p.Pro1387Ser
XM_011535038.1:c.4183C>T XP_011533340.1:p.Pro1395Ser
XM_011535039.1:c.4150C>T XP_011533341.1:p.Pro1384Ser
XM_005266338.2:c.4159C>T XP_005266395.1:p.Pro1387Ser
XM_011535039.2:c.4150C>T XP_011533341.1:p.Pro1384Ser
XM_017020539.1:c.4123C>T XP_016876028.1:p.Pro1375Ser
XM_024449337.1:c.4159C>T XP_024305105.1:p.Pro1387Ser
NM_014363.6:c.4132C>T MANE Select NP_055178.3:p.Pro1378Ser
NM_001278055.2:c.3691C>T NP_001264984.1:p.Pro1231Ser