Canonical Allele Identifier: CA239310
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 193707
dbSNP Id: rs34382952

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330159T>G , CM000675.2:g.23330159T>G GRCh38
NC_000013.10:g.23904298T>G , CM000675.1:g.23904298T>G GRCh37
NC_000013.9:g.22802298T>G NCBI36
NG_012342.1:g.108544A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18044A>C ENSP00000508399.1:n.2186-18044A>C
ENST00000682944.1:c.13744A>C ENSP00000507173.1:p.Asn4582His
ENST00000683210.1:c.2185+23626A>C ENSP00000506739.1:n.2185+23626A>C
ENST00000683270.1:c.6446-675A>C ENSP00000507624.1:n.6446-675A>C
ENST00000683367.1:c.2177-675A>C ENSP00000507780.1:n.2177-675A>C
ENST00000683489.1:c.2292-207A>C ENSP00000508403.1:n.2292-207A>C
ENST00000683680.1:c.2319-207A>C ENSP00000507223.1:n.2319-207A>C
ENST00000684163.1:c.2204-675A>C ENSP00000508262.1:n.2204-675A>C
ENST00000684196.1:n.4543-675A>C
ENST00000684325.1:c.2186-8485A>C ENSP00000508121.1:n.2186-8485A>C
ENST00000684385.1:c.2221-675A>C ENSP00000507855.1:n.2221-675A>C
ENST00000684497.1:c.2186-7515A>C ENSP00000507057.1:n.2186-7515A>C
ENST00000382292.9:c.13717A>C MANE Select ENSP00000371729.3:p.Asn4573His
ENST00000423156.2:c.2186-675A>C ENSP00000390925.2:n.2186-675A>C
ENST00000455470.6:c.2432-675A>C ENSP00000406565.2:n.2432-675A>C
ENST00000382292.7:c.13717A>C ENSP00000371729.3:p.Asn4573His
ENST00000382298.7:c.13717A>C ENSP00000371735.3:p.Asn4573His
ENST00000402364.1:c.11467A>C ENSP00000385844.1:p.Asn3823His
ENST00000423156.1:c.1058-675A>C ENSP00000390925.1:n.1058-675A>C
ENST00000455470.5:c.2130-675A>C
NM_001278055.1:c.13276A>C NP_001264984.1:p.Asn4426His
NM_014363.5:c.13717A>C NP_055178.3:p.Asn4573His
XM_005266338.1:c.13744A>C XP_005266395.1:p.Asn4582His
XM_011535038.1:c.13768A>C XP_011533340.1:p.Asn4590His
XM_011535039.1:c.13735A>C XP_011533341.1:p.Asn4579His
XM_005266338.2:c.13744A>C XP_005266395.1:p.Asn4582His
XM_011535039.2:c.13735A>C XP_011533341.1:p.Asn4579His
XM_017020539.1:c.13708A>C XP_016876028.1:p.Asn4570His
XM_024449337.1:c.13744A>C XP_024305105.1:p.Asn4582His
NM_014363.6:c.13717A>C MANE Select NP_055178.3:p.Asn4573His
NM_001278055.2:c.13276A>C NP_001264984.1:p.Asn4426His