Canonical Allele Identifier: CA483163191
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23914565T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340426T>G , CM000675.2:g.23340426T>G GRCh38
NC_000013.10:g.23914565T>G , CM000675.1:g.23914565T>G GRCh37
NC_000013.9:g.22812565T>G NCBI36
NG_012342.1:g.98277A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+13359A>C ENSP00000508399.1:n.2185+13359A>C
ENST00000682944.1:c.3477A>C ENSP00000507173.1:p.Thr1159=
ENST00000683210.1:c.2185+13359A>C ENSP00000506739.1:n.2185+13359A>C
ENST00000683270.1:c.3441A>C ENSP00000507624.1:p.Thr1147=
ENST00000683367.1:c.2177-10942A>C ENSP00000507780.1:n.2177-10942A>C
ENST00000683489.1:c.2291+1159A>C ENSP00000508403.1:n.2291+1159A>C
ENST00000683680.1:c.2318+1159A>C ENSP00000507223.1:n.2318+1159A>C
ENST00000684163.1:c.2203+6385A>C ENSP00000508262.1:n.2203+6385A>C
ENST00000684196.1:n.4543-10942A>C
ENST00000684325.1:c.2185+13359A>C ENSP00000508121.1:n.2185+13359A>C
ENST00000684385.1:c.2220+6385A>C ENSP00000507855.1:n.2220+6385A>C
ENST00000684497.1:c.2185+13359A>C ENSP00000507057.1:n.2185+13359A>C
ENST00000382292.9:c.3450A>C MANE Select ENSP00000371729.3:p.Thr1150=
ENST00000423156.2:c.2186-10942A>C ENSP00000390925.2:n.2186-10942A>C
ENST00000455470.6:c.2431+1019A>C ENSP00000406565.2:n.2431+1019A>C
ENST00000382292.7:c.3450A>C ENSP00000371729.3:p.Thr1150=
ENST00000382298.7:c.3450A>C ENSP00000371735.3:p.Thr1150=
ENST00000402364.1:c.1200A>C ENSP00000385844.1:p.Thr400=
ENST00000423156.1:c.1058-10942A>C ENSP00000390925.1:n.1058-10942A>C
ENST00000455470.5:c.2129+1019A>C
NM_001278055.1:c.3009A>C NP_001264984.1:p.Thr1003=
NM_014363.5:c.3450A>C NP_055178.3:p.Thr1150=
XM_005266338.1:c.3477A>C XP_005266395.1:p.Thr1159=
XM_011535038.1:c.3501A>C XP_011533340.1:p.Thr1167=
XM_011535039.1:c.3468A>C XP_011533341.1:p.Thr1156=
XM_005266338.2:c.3477A>C XP_005266395.1:p.Thr1159=
XM_011535039.2:c.3468A>C XP_011533341.1:p.Thr1156=
XM_017020539.1:c.3441A>C XP_016876028.1:p.Thr1147=
XM_024449337.1:c.3477A>C XP_024305105.1:p.Thr1159=
NM_014363.6:c.3450A>C MANE Select NP_055178.3:p.Thr1150=
NM_001278055.2:c.3009A>C NP_001264984.1:p.Thr1003=