Canonical Allele Identifier: CA483163384
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23914862A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340723A>G , CM000675.2:g.23340723A>G GRCh38
NC_000013.10:g.23914862A>G , CM000675.1:g.23914862A>G GRCh37
NC_000013.9:g.22812862A>G NCBI36
NG_012342.1:g.97980T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+13062T>C ENSP00000508399.1:n.2185+13062T>C
ENST00000682944.1:c.3180T>C ENSP00000507173.1:p.Gly1060=
ENST00000683210.1:c.2185+13062T>C ENSP00000506739.1:n.2185+13062T>C
ENST00000683270.1:c.3144T>C ENSP00000507624.1:p.Gly1048=
ENST00000683367.1:c.2177-11239T>C ENSP00000507780.1:n.2177-11239T>C
ENST00000683489.1:c.2291+862T>C ENSP00000508403.1:n.2291+862T>C
ENST00000683680.1:c.2318+862T>C ENSP00000507223.1:n.2318+862T>C
ENST00000684163.1:c.2203+6088T>C ENSP00000508262.1:n.2203+6088T>C
ENST00000684196.1:n.4543-11239T>C
ENST00000684325.1:c.2185+13062T>C ENSP00000508121.1:n.2185+13062T>C
ENST00000684385.1:c.2220+6088T>C ENSP00000507855.1:n.2220+6088T>C
ENST00000684497.1:c.2185+13062T>C ENSP00000507057.1:n.2185+13062T>C
ENST00000382292.9:c.3153T>C MANE Select ENSP00000371729.3:p.Gly1051=
ENST00000423156.2:c.2186-11239T>C ENSP00000390925.2:n.2186-11239T>C
ENST00000455470.6:c.2431+722T>C ENSP00000406565.2:n.2431+722T>C
ENST00000382292.7:c.3153T>C ENSP00000371729.3:p.Gly1051=
ENST00000382298.7:c.3153T>C ENSP00000371735.3:p.Gly1051=
ENST00000402364.1:c.903T>C ENSP00000385844.1:p.Gly301=
ENST00000423156.1:c.1058-11239T>C ENSP00000390925.1:n.1058-11239T>C
ENST00000455470.5:c.2129+722T>C
NM_001278055.1:c.2712T>C NP_001264984.1:p.Gly904=
NM_014363.5:c.3153T>C NP_055178.3:p.Gly1051=
XM_005266338.1:c.3180T>C XP_005266395.1:p.Gly1060=
XM_011535038.1:c.3204T>C XP_011533340.1:p.Gly1068=
XM_011535039.1:c.3171T>C XP_011533341.1:p.Gly1057=
XM_005266338.2:c.3180T>C XP_005266395.1:p.Gly1060=
XM_011535039.2:c.3171T>C XP_011533341.1:p.Gly1057=
XM_017020539.1:c.3144T>C XP_016876028.1:p.Gly1048=
XM_024449337.1:c.3180T>C XP_024305105.1:p.Gly1060=
NM_014363.6:c.3153T>C MANE Select NP_055178.3:p.Gly1051=
NM_001278055.2:c.2712T>C NP_001264984.1:p.Gly904=