Canonical Allele Identifier: CA387547599
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 449520
dbSNP Id: rs1440541889

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23355005G>A , CM000675.2:g.23355005G>A GRCh38
NC_000013.10:g.23929144G>A , CM000675.1:g.23929144G>A GRCh37
NC_000013.9:g.22827144G>A NCBI36
NG_012342.1:g.83698C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.1607C>T ENSP00000508399.1:p.Pro536Leu
ENST00000682944.1:c.1607C>T ENSP00000507173.1:p.Pro536Leu
ENST00000683154.1:n.1745C>T
ENST00000683210.1:c.1607C>T ENSP00000506739.1:p.Pro536Leu
ENST00000683270.1:c.1598C>T ENSP00000507624.1:p.Pro533Leu
ENST00000683367.1:c.1598C>T ENSP00000507780.1:p.Pro533Leu
ENST00000683489.1:c.1607C>T ENSP00000508403.1:p.Pro536Leu
ENST00000683680.1:c.1607C>T ENSP00000507223.1:p.Pro536Leu
ENST00000684163.1:c.1598C>T ENSP00000508262.1:p.Pro533Leu
ENST00000684196.1:n.3964C>T
ENST00000684325.1:c.1607C>T ENSP00000508121.1:p.Pro536Leu
ENST00000684385.1:c.1607C>T ENSP00000507855.1:p.Pro536Leu
ENST00000684497.1:c.1607C>T ENSP00000507057.1:p.Pro536Leu
ENST00000382292.9:c.1607C>T MANE Select ENSP00000371729.3:p.Pro536Leu
ENST00000423156.2:c.1607C>T ENSP00000390925.2:p.Pro536Leu
ENST00000455470.6:c.1607C>T ENSP00000406565.2:p.Pro536Leu
ENST00000382292.7:c.1607C>T ENSP00000371729.3:p.Pro536Leu
ENST00000382298.7:c.1607C>T ENSP00000371735.3:p.Pro536Leu
ENST00000402364.1:c.-644C>T ENSP00000385844.1:n.-644C>T
ENST00000423156.1:c.479C>T ENSP00000390925.1:p.Pro160Leu
ENST00000455470.5:c.1305C>T
NM_001278055.1:c.1166C>T NP_001264984.1:p.Pro389Leu
NM_014363.5:c.1607C>T NP_055178.3:p.Pro536Leu
XM_005266338.1:c.1607C>T XP_005266395.1:p.Pro536Leu
XM_011535038.1:c.1631C>T XP_011533340.1:p.Pro544Leu
XM_011535039.1:c.1598C>T XP_011533341.1:p.Pro533Leu
XM_005266338.2:c.1607C>T XP_005266395.1:p.Pro536Leu
XM_011535039.2:c.1598C>T XP_011533341.1:p.Pro533Leu
XM_017020539.1:c.1598C>T XP_016876028.1:p.Pro533Leu
XM_024449337.1:c.1607C>T XP_024305105.1:p.Pro536Leu
NM_014363.6:c.1607C>T MANE Select NP_055178.3:p.Pro536Leu
NM_001278055.2:c.1166C>T NP_001264984.1:p.Pro389Leu