Canonical Allele Identifier: CA6911879
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311560
dbSNP Id: rs140507581

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23354972G>A , CM000675.2:g.23354972G>A GRCh38
NC_000013.10:g.23929111G>A , CM000675.1:g.23929111G>A GRCh37
NC_000013.9:g.22827111G>A NCBI36
NG_012342.1:g.83731C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.1640C>T ENSP00000508399.1:p.Pro547Leu
ENST00000682944.1:c.1640C>T ENSP00000507173.1:p.Pro547Leu
ENST00000683154.1:n.1778C>T
ENST00000683210.1:c.1640C>T ENSP00000506739.1:p.Pro547Leu
ENST00000683270.1:c.1631C>T ENSP00000507624.1:p.Pro544Leu
ENST00000683367.1:c.1631C>T ENSP00000507780.1:p.Pro544Leu
ENST00000683489.1:c.1640C>T ENSP00000508403.1:p.Pro547Leu
ENST00000683680.1:c.1640C>T ENSP00000507223.1:p.Pro547Leu
ENST00000684163.1:c.1631C>T ENSP00000508262.1:p.Pro544Leu
ENST00000684196.1:n.3997C>T
ENST00000684325.1:c.1640C>T ENSP00000508121.1:p.Pro547Leu
ENST00000684385.1:c.1640C>T ENSP00000507855.1:p.Pro547Leu
ENST00000684497.1:c.1640C>T ENSP00000507057.1:p.Pro547Leu
ENST00000382292.9:c.1640C>T MANE Select ENSP00000371729.3:p.Pro547Leu
ENST00000423156.2:c.1640C>T ENSP00000390925.2:p.Pro547Leu
ENST00000455470.6:c.1640C>T ENSP00000406565.2:p.Pro547Leu
ENST00000382292.7:c.1640C>T ENSP00000371729.3:p.Pro547Leu
ENST00000382298.7:c.1640C>T ENSP00000371735.3:p.Pro547Leu
ENST00000402364.1:c.-611C>T ENSP00000385844.1:n.-611C>T
ENST00000423156.1:c.512C>T ENSP00000390925.1:p.Pro171Leu
ENST00000455470.5:c.1338C>T
NM_001278055.1:c.1199C>T NP_001264984.1:p.Pro400Leu
NM_014363.5:c.1640C>T NP_055178.3:p.Pro547Leu
XM_005266338.1:c.1640C>T XP_005266395.1:p.Pro547Leu
XM_011535038.1:c.1664C>T XP_011533340.1:p.Pro555Leu
XM_011535039.1:c.1631C>T XP_011533341.1:p.Pro544Leu
XM_005266338.2:c.1640C>T XP_005266395.1:p.Pro547Leu
XM_011535039.2:c.1631C>T XP_011533341.1:p.Pro544Leu
XM_017020539.1:c.1631C>T XP_016876028.1:p.Pro544Leu
XM_024449337.1:c.1640C>T XP_024305105.1:p.Pro547Leu
NM_014363.6:c.1640C>T MANE Select NP_055178.3:p.Pro547Leu
NM_001278055.2:c.1199C>T NP_001264984.1:p.Pro400Leu