Canonical Allele Identifier: CA239318
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 193712
dbSNP Id: rs150981983

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340802T>A , CM000675.2:g.23340802T>A GRCh38
NC_000013.10:g.23914941T>A , CM000675.1:g.23914941T>A GRCh37
NC_000013.9:g.22812941T>A NCBI36
NG_012342.1:g.97901A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.3074A>T MANE Select ENSP00000371729.3:p.Asn1025Ile
ENST00000423156.2:c.2186-11318A>T ENSP00000390925.2:p.=
ENST00000455470.6:c.2431+643A>T ENSP00000406565.2:p.=
ENST00000382292.7:c.3074A>T ENSP00000371729.3:p.Asn1025Ile
ENST00000382298.7:c.3074A>T ENSP00000371735.3:p.Asn1025Ile
ENST00000402364.1:c.824A>T ENSP00000385844.1:p.Asn275Ile
ENST00000423156.1:n.1058-11318A>T ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+643A>T
NM_001278055.1:c.2633A>T NP_001264984.1:p.Asn878Ile
NM_014363.5:c.3074A>T NP_055178.3:p.Asn1025Ile
XM_005266338.1:c.3101A>T XP_005266395.1:p.Asn1034Ile
XM_011535038.1:c.3125A>T XP_011533340.1:p.Asn1042Ile
XM_011535039.1:c.3092A>T XP_011533341.1:p.Asn1031Ile
XM_005266338.2:c.3101A>T XP_005266395.1:p.Asn1034Ile
XM_011535039.2:c.3092A>T XP_011533341.1:p.Asn1031Ile
XM_017020539.1:c.3065A>T XP_016876028.1:p.Asn1022Ile
XM_024449337.1:c.3101A>T XP_024305105.1:p.Asn1034Ile
NM_014363.6:c.3074A>T MANE Select NP_055178.3:p.Asn1025Ile
NM_001278055.2:c.2633A>T NP_001264984.1:p.Asn878Ile