Canonical Allele Identifier: CA482918575
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23915780A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341641A>C , CM000675.2:g.23341641A>C GRCh38
NC_000013.10:g.23915780A>C , CM000675.1:g.23915780A>C GRCh37
NC_000013.9:g.22813780A>C NCBI36
NG_012342.1:g.97062T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+12144T>G ENSP00000508399.1:n.2185+12144T>G
ENST00000682944.1:c.2262T>G ENSP00000507173.1:p.Arg754=
ENST00000683210.1:c.2185+12144T>G ENSP00000506739.1:n.2185+12144T>G
ENST00000683270.1:c.2226T>G ENSP00000507624.1:p.Arg742=
ENST00000683367.1:c.2176+12144T>G ENSP00000507780.1:n.2176+12144T>G
ENST00000683489.1:c.2235T>G ENSP00000508403.1:p.Arg745=
ENST00000683680.1:c.2262T>G ENSP00000507223.1:p.Arg754=
ENST00000684163.1:c.2203+5170T>G ENSP00000508262.1:n.2203+5170T>G
ENST00000684196.1:n.4542+12144T>G
ENST00000684325.1:c.2185+12144T>G ENSP00000508121.1:n.2185+12144T>G
ENST00000684385.1:c.2220+5170T>G ENSP00000507855.1:n.2220+5170T>G
ENST00000684497.1:c.2185+12144T>G ENSP00000507057.1:n.2185+12144T>G
ENST00000382292.9:c.2235T>G MANE Select ENSP00000371729.3:p.Arg745=
ENST00000423156.2:c.2185+12144T>G ENSP00000390925.2:n.2185+12144T>G
ENST00000455470.6:c.2235T>G ENSP00000406565.2:p.Arg745=
ENST00000382292.7:c.2235T>G ENSP00000371729.3:p.Arg745=
ENST00000382298.7:c.2235T>G ENSP00000371735.3:p.Arg745=
ENST00000402364.1:c.-16T>G ENSP00000385844.1:n.-16T>G
ENST00000423156.1:c.1057+12144T>G ENSP00000390925.1:n.1057+12144T>G
ENST00000455470.5:c.1933T>G
NM_001278055.1:c.1794T>G NP_001264984.1:p.Arg598=
NM_014363.5:c.2235T>G NP_055178.3:p.Arg745=
XM_005266338.1:c.2262T>G XP_005266395.1:p.Arg754=
XM_011535038.1:c.2286T>G XP_011533340.1:p.Arg762=
XM_011535039.1:c.2253T>G XP_011533341.1:p.Arg751=
XM_005266338.2:c.2262T>G XP_005266395.1:p.Arg754=
XM_011535039.2:c.2253T>G XP_011533341.1:p.Arg751=
XM_017020539.1:c.2226T>G XP_016876028.1:p.Arg742=
XM_024449337.1:c.2262T>G XP_024305105.1:p.Arg754=
NM_014363.6:c.2235T>G MANE Select NP_055178.3:p.Arg745=
NM_001278055.2:c.1794T>G NP_001264984.1:p.Arg598=