Canonical Allele Identifier: CA387506458
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330953T>A , CM000675.2:g.23330953T>A GRCh38
NC_000013.10:g.23905092T>A , CM000675.1:g.23905092T>A GRCh37
NC_000013.9:g.22803092T>A NCBI36
NG_012342.1:g.107750A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18838A>T ENSP00000508399.1:n.2186-18838A>T
ENST00000682944.1:c.12950A>T ENSP00000507173.1:p.Lys4317Ile
ENST00000683210.1:c.2185+22832A>T ENSP00000506739.1:n.2185+22832A>T
ENST00000683270.1:c.6446-1469A>T ENSP00000507624.1:n.6446-1469A>T
ENST00000683367.1:c.2177-1469A>T ENSP00000507780.1:n.2177-1469A>T
ENST00000683489.1:c.2292-1001A>T ENSP00000508403.1:n.2292-1001A>T
ENST00000683680.1:c.2319-1001A>T ENSP00000507223.1:n.2319-1001A>T
ENST00000684163.1:c.2204-1469A>T ENSP00000508262.1:n.2204-1469A>T
ENST00000684196.1:n.4543-1469A>T
ENST00000684325.1:c.2186-9279A>T ENSP00000508121.1:n.2186-9279A>T
ENST00000684385.1:c.2221-1469A>T ENSP00000507855.1:n.2221-1469A>T
ENST00000684497.1:c.2186-8309A>T ENSP00000507057.1:n.2186-8309A>T
ENST00000382292.9:c.12923A>T MANE Select ENSP00000371729.3:p.Lys4308Ile
ENST00000423156.2:c.2186-1469A>T ENSP00000390925.2:n.2186-1469A>T
ENST00000455470.6:c.2432-1469A>T ENSP00000406565.2:n.2432-1469A>T
ENST00000382292.7:c.12923A>T ENSP00000371729.3:p.Lys4308Ile
ENST00000382298.7:c.12923A>T ENSP00000371735.3:p.Lys4308Ile
ENST00000402364.1:c.10673A>T ENSP00000385844.1:p.Lys3558Ile
ENST00000423156.1:c.1058-1469A>T ENSP00000390925.1:n.1058-1469A>T
ENST00000455470.5:c.2130-1469A>T
NM_001278055.1:c.12482A>T NP_001264984.1:p.Lys4161Ile
NM_014363.5:c.12923A>T NP_055178.3:p.Lys4308Ile
XM_005266338.1:c.12950A>T XP_005266395.1:p.Lys4317Ile
XM_011535038.1:c.12974A>T XP_011533340.1:p.Lys4325Ile
XM_011535039.1:c.12941A>T XP_011533341.1:p.Lys4314Ile
XM_005266338.2:c.12950A>T XP_005266395.1:p.Lys4317Ile
XM_011535039.2:c.12941A>T XP_011533341.1:p.Lys4314Ile
XM_017020539.1:c.12914A>T XP_016876028.1:p.Lys4305Ile
XM_024449337.1:c.12950A>T XP_024305105.1:p.Lys4317Ile
NM_014363.6:c.12923A>T MANE Select NP_055178.3:p.Lys4308Ile
NM_001278055.2:c.12482A>T NP_001264984.1:p.Lys4161Ile