Canonical Allele Identifier: CA387536885
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340819A>T , CM000675.2:g.23340819A>T GRCh38
NC_000013.10:g.23914958A>T , CM000675.1:g.23914958A>T GRCh37
NC_000013.9:g.22812958A>T NCBI36
NG_012342.1:g.97884T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+12966T>A ENSP00000508399.1:n.2185+12966T>A
ENST00000682944.1:c.3084T>A ENSP00000507173.1:p.Asn1028Lys
ENST00000683210.1:c.2185+12966T>A ENSP00000506739.1:n.2185+12966T>A
ENST00000683270.1:c.3048T>A ENSP00000507624.1:p.Asn1016Lys
ENST00000683367.1:c.2177-11335T>A ENSP00000507780.1:n.2177-11335T>A
ENST00000683489.1:c.2291+766T>A ENSP00000508403.1:n.2291+766T>A
ENST00000683680.1:c.2318+766T>A ENSP00000507223.1:n.2318+766T>A
ENST00000684163.1:c.2203+5992T>A ENSP00000508262.1:n.2203+5992T>A
ENST00000684196.1:n.4543-11335T>A
ENST00000684325.1:c.2185+12966T>A ENSP00000508121.1:n.2185+12966T>A
ENST00000684385.1:c.2220+5992T>A ENSP00000507855.1:n.2220+5992T>A
ENST00000684497.1:c.2185+12966T>A ENSP00000507057.1:n.2185+12966T>A
ENST00000382292.9:c.3057T>A MANE Select ENSP00000371729.3:p.Asn1019Lys
ENST00000423156.2:c.2186-11335T>A ENSP00000390925.2:n.2186-11335T>A
ENST00000455470.6:c.2431+626T>A ENSP00000406565.2:n.2431+626T>A
ENST00000382292.7:c.3057T>A ENSP00000371729.3:p.Asn1019Lys
ENST00000382298.7:c.3057T>A ENSP00000371735.3:p.Asn1019Lys
ENST00000402364.1:c.807T>A ENSP00000385844.1:p.Asn269Lys
ENST00000423156.1:c.1058-11335T>A ENSP00000390925.1:n.1058-11335T>A
ENST00000455470.5:c.2129+626T>A
NM_001278055.1:c.2616T>A NP_001264984.1:p.Asn872Lys
NM_014363.5:c.3057T>A NP_055178.3:p.Asn1019Lys
XM_005266338.1:c.3084T>A XP_005266395.1:p.Asn1028Lys
XM_011535038.1:c.3108T>A XP_011533340.1:p.Asn1036Lys
XM_011535039.1:c.3075T>A XP_011533341.1:p.Asn1025Lys
XM_005266338.2:c.3084T>A XP_005266395.1:p.Asn1028Lys
XM_011535039.2:c.3075T>A XP_011533341.1:p.Asn1025Lys
XM_017020539.1:c.3048T>A XP_016876028.1:p.Asn1016Lys
XM_024449337.1:c.3084T>A XP_024305105.1:p.Asn1028Lys
NM_014363.6:c.3057T>A MANE Select NP_055178.3:p.Asn1019Lys
NM_001278055.2:c.2616T>A NP_001264984.1:p.Asn872Lys