Canonical Allele Identifier: CA483163371
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23914841T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340702T>A , CM000675.2:g.23340702T>A GRCh38
NC_000013.10:g.23914841T>A , CM000675.1:g.23914841T>A GRCh37
NC_000013.9:g.22812841T>A NCBI36
NG_012342.1:g.98001A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+13083A>T ENSP00000508399.1:n.2185+13083A>T
ENST00000682944.1:c.3201A>T ENSP00000507173.1:p.Ile1067=
ENST00000683210.1:c.2185+13083A>T ENSP00000506739.1:n.2185+13083A>T
ENST00000683270.1:c.3165A>T ENSP00000507624.1:p.Ile1055=
ENST00000683367.1:c.2177-11218A>T ENSP00000507780.1:n.2177-11218A>T
ENST00000683489.1:c.2291+883A>T ENSP00000508403.1:n.2291+883A>T
ENST00000683680.1:c.2318+883A>T ENSP00000507223.1:n.2318+883A>T
ENST00000684163.1:c.2203+6109A>T ENSP00000508262.1:n.2203+6109A>T
ENST00000684196.1:n.4543-11218A>T
ENST00000684325.1:c.2185+13083A>T ENSP00000508121.1:n.2185+13083A>T
ENST00000684385.1:c.2220+6109A>T ENSP00000507855.1:n.2220+6109A>T
ENST00000684497.1:c.2185+13083A>T ENSP00000507057.1:n.2185+13083A>T
ENST00000382292.9:c.3174A>T MANE Select ENSP00000371729.3:p.Ile1058=
ENST00000423156.2:c.2186-11218A>T ENSP00000390925.2:n.2186-11218A>T
ENST00000455470.6:c.2431+743A>T ENSP00000406565.2:n.2431+743A>T
ENST00000382292.7:c.3174A>T ENSP00000371729.3:p.Ile1058=
ENST00000382298.7:c.3174A>T ENSP00000371735.3:p.Ile1058=
ENST00000402364.1:c.924A>T ENSP00000385844.1:p.Ile308=
ENST00000423156.1:c.1058-11218A>T ENSP00000390925.1:n.1058-11218A>T
ENST00000455470.5:c.2129+743A>T
NM_001278055.1:c.2733A>T NP_001264984.1:p.Ile911=
NM_014363.5:c.3174A>T NP_055178.3:p.Ile1058=
XM_005266338.1:c.3201A>T XP_005266395.1:p.Ile1067=
XM_011535038.1:c.3225A>T XP_011533340.1:p.Ile1075=
XM_011535039.1:c.3192A>T XP_011533341.1:p.Ile1064=
XM_005266338.2:c.3201A>T XP_005266395.1:p.Ile1067=
XM_011535039.2:c.3192A>T XP_011533341.1:p.Ile1064=
XM_017020539.1:c.3165A>T XP_016876028.1:p.Ile1055=
XM_024449337.1:c.3201A>T XP_024305105.1:p.Ile1067=
NM_014363.6:c.3174A>T MANE Select NP_055178.3:p.Ile1058=
NM_001278055.2:c.2733A>T NP_001264984.1:p.Ile911=