Canonical Allele Identifier: CA387518642
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 961279
ClinVar RCV Id: RCV001234949
dbSNP Id: rs1397645663

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336263G>A , CM000675.2:g.23336263G>A GRCh38
NC_000013.10:g.23910402G>A , CM000675.1:g.23910402G>A GRCh37
NC_000013.9:g.22808402G>A NCBI36
NG_012342.1:g.102440C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17522C>T ENSP00000508399.1:n.2185+17522C>T
ENST00000682944.1:c.7640C>T ENSP00000507173.1:p.Ala2547Val
ENST00000683210.1:c.2185+17522C>T ENSP00000506739.1:n.2185+17522C>T
ENST00000683270.1:c.6445+1159C>T ENSP00000507624.1:n.6445+1159C>T
ENST00000683367.1:c.2177-6779C>T ENSP00000507780.1:n.2177-6779C>T
ENST00000683489.1:c.2291+5322C>T ENSP00000508403.1:n.2291+5322C>T
ENST00000683680.1:c.2318+5322C>T ENSP00000507223.1:n.2318+5322C>T
ENST00000684163.1:c.2204-6779C>T ENSP00000508262.1:n.2204-6779C>T
ENST00000684196.1:n.4543-6779C>T
ENST00000684325.1:c.2186-14589C>T ENSP00000508121.1:n.2186-14589C>T
ENST00000684385.1:c.2221-6779C>T ENSP00000507855.1:n.2221-6779C>T
ENST00000684497.1:c.2186-13619C>T ENSP00000507057.1:n.2186-13619C>T
ENST00000382292.9:c.7613C>T MANE Select ENSP00000371729.3:p.Ala2538Val
ENST00000423156.2:c.2186-6779C>T ENSP00000390925.2:n.2186-6779C>T
ENST00000455470.6:c.2431+5182C>T ENSP00000406565.2:n.2431+5182C>T
ENST00000382292.7:c.7613C>T ENSP00000371729.3:p.Ala2538Val
ENST00000382298.7:c.7613C>T ENSP00000371735.3:p.Ala2538Val
ENST00000402364.1:c.5363C>T ENSP00000385844.1:p.Ala1788Val
ENST00000423156.1:c.1058-6779C>T ENSP00000390925.1:n.1058-6779C>T
ENST00000455470.5:c.2129+5182C>T
NM_001278055.1:c.7172C>T NP_001264984.1:p.Ala2391Val
NM_014363.5:c.7613C>T NP_055178.3:p.Ala2538Val
XM_005266338.1:c.7640C>T XP_005266395.1:p.Ala2547Val
XM_011535038.1:c.7664C>T XP_011533340.1:p.Ala2555Val
XM_011535039.1:c.7631C>T XP_011533341.1:p.Ala2544Val
XM_005266338.2:c.7640C>T XP_005266395.1:p.Ala2547Val
XM_011535039.2:c.7631C>T XP_011533341.1:p.Ala2544Val
XM_017020539.1:c.7604C>T XP_016876028.1:p.Ala2535Val
XM_024449337.1:c.7640C>T XP_024305105.1:p.Ala2547Val
NM_014363.6:c.7613C>T MANE Select NP_055178.3:p.Ala2538Val
NM_001278055.2:c.7172C>T NP_001264984.1:p.Ala2391Val