Canonical Allele Identifier: CA658682655
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 424657
ClinVar RCV Id: RCV000515975

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.[23354972G>A;23354978C>A] , CM000675.2:g.[23354972G>A;23354978C>A] GRCh38
NC_000013.10:g.[23929111G>A;23929117C>A] , CM000675.1:g.[23929111G>A;23929117C>A] GRCh37
NC_000013.9:g.[22827111G>A;22827117C>A] NCBI36
NG_012342.1:g.[83725G>T;83731C>T]

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.[1634G>T;1640C>T] MANE Select ENSP00000371729.3:p.[Trp545Leu;Pro547Leu]...
ENST00000423156.2:c.[1634G>T;1640C>T] ENSP00000390925.2:p.[Trp545Leu;Pro547Leu]...
ENST00000455470.6:c.[1634G>T;1640C>T] ENSP00000406565.2:p.[Trp545Leu;Pro547Leu]...
ENST00000382292.7:c.[1634G>T;1640C>T] ENSP00000371729.3:p.[Trp545Leu;Pro547Leu]...
ENST00000382298.7:c.[1634G>T;1640C>T] ENSP00000371735.3:p.[Trp545Leu;Pro547Leu]...
ENST00000402364.1:c.[-617G>T;-611C>T] ENSP00000385844.1:p.=
ENST00000423156.1:n.[506G>T;512C>T] ENSP00000390925.1:p.[Trp169Leu;Pro171Leu]...
ENST00000455470.5:n.[1332G>T;1338C>T]
NM_001278055.1:c.[1193G>T;1199C>T] NP_001264984.1:p.[Trp398Leu;Pro400Leu]
NM_014363.5:c.[1634G>T;1640C>T] NP_055178.3:p.[Trp545Leu;Pro547Leu]
XM_005266338.1:c.[1634G>T;1640C>T] XP_005266395.1:p.[Trp545Leu;Pro547Leu]
XM_011535038.1:c.[1658G>T;1664C>T] XP_011533340.1:p.[Trp553Leu;Pro555Leu]
XM_011535039.1:c.[1625G>T;1631C>T] XP_011533341.1:p.[Trp542Leu;Pro544Leu]
XM_005266338.2:c.[1634G>T;1640C>T] XP_005266395.1:p.[Trp545Leu;Pro547Leu]
XM_011535039.2:c.[1625G>T;1631C>T] XP_011533341.1:p.[Trp542Leu;Pro544Leu]
XM_017020539.1:c.[1625G>T;1631C>T] XP_016876028.1:p.[Trp542Leu;Pro544Leu]
XM_024449337.1:c.[1634G>T;1640C>T] XP_024305105.1:p.[Trp545Leu;Pro547Leu]
NM_014363.6:c.[1634G>T;1640C>T] MANE Select NP_055178.3:p.[Trp545Leu;Pro547Leu]
NM_001278055.2:c.[1193G>T;1199C>T] NP_001264984.1:p.[Trp398Leu;Pro400Leu]