Canonical Allele Identifier: CA483164128
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23915702T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341563T>C , CM000675.2:g.23341563T>C GRCh38
NC_000013.10:g.23915702T>C , CM000675.1:g.23915702T>C GRCh37
NC_000013.9:g.22813702T>C NCBI36
NG_012342.1:g.97140A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+12222A>G ENSP00000508399.1:n.2185+12222A>G
ENST00000682944.1:c.2340A>G ENSP00000507173.1:p.Arg780=
ENST00000683210.1:c.2185+12222A>G ENSP00000506739.1:n.2185+12222A>G
ENST00000683270.1:c.2304A>G ENSP00000507624.1:p.Arg768=
ENST00000683367.1:c.2177-12079A>G ENSP00000507780.1:n.2177-12079A>G
ENST00000683489.1:c.2291+22A>G ENSP00000508403.1:n.2291+22A>G
ENST00000683680.1:c.2318+22A>G ENSP00000507223.1:n.2318+22A>G
ENST00000684163.1:c.2203+5248A>G ENSP00000508262.1:n.2203+5248A>G
ENST00000684196.1:n.4543-12079A>G
ENST00000684325.1:c.2185+12222A>G ENSP00000508121.1:n.2185+12222A>G
ENST00000684385.1:c.2220+5248A>G ENSP00000507855.1:n.2220+5248A>G
ENST00000684497.1:c.2185+12222A>G ENSP00000507057.1:n.2185+12222A>G
ENST00000382292.9:c.2313A>G MANE Select ENSP00000371729.3:p.Arg771=
ENST00000423156.2:c.2186-12079A>G ENSP00000390925.2:n.2186-12079A>G
ENST00000455470.6:c.2313A>G ENSP00000406565.2:p.Arg771=
ENST00000382292.7:c.2313A>G ENSP00000371729.3:p.Arg771=
ENST00000382298.7:c.2313A>G ENSP00000371735.3:p.Arg771=
ENST00000402364.1:c.63A>G ENSP00000385844.1:p.Arg21=
ENST00000423156.1:c.1058-12079A>G ENSP00000390925.1:n.1058-12079A>G
ENST00000455470.5:c.2011A>G
NM_001278055.1:c.1872A>G NP_001264984.1:p.Arg624=
NM_014363.5:c.2313A>G NP_055178.3:p.Arg771=
XM_005266338.1:c.2340A>G XP_005266395.1:p.Arg780=
XM_011535038.1:c.2364A>G XP_011533340.1:p.Arg788=
XM_011535039.1:c.2331A>G XP_011533341.1:p.Arg777=
XM_005266338.2:c.2340A>G XP_005266395.1:p.Arg780=
XM_011535039.2:c.2331A>G XP_011533341.1:p.Arg777=
XM_017020539.1:c.2304A>G XP_016876028.1:p.Arg768=
XM_024449337.1:c.2340A>G XP_024305105.1:p.Arg780=
NM_014363.6:c.2313A>G MANE Select NP_055178.3:p.Arg771=
NM_001278055.2:c.1872A>G NP_001264984.1:p.Arg624=