Canonical Allele Identifier: CA387526042
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338592T>A , CM000675.2:g.23338592T>A GRCh38
NC_000013.10:g.23912731T>A , CM000675.1:g.23912731T>A GRCh37
NC_000013.9:g.22810731T>A NCBI36
NG_012342.1:g.100111A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+15193A>T ENSP00000508399.1:n.2185+15193A>T
ENST00000682944.1:c.5311A>T ENSP00000507173.1:p.Ile1771Phe
ENST00000683210.1:c.2185+15193A>T ENSP00000506739.1:n.2185+15193A>T
ENST00000683270.1:c.5275A>T ENSP00000507624.1:p.Ile1759Phe
ENST00000683367.1:c.2177-9108A>T ENSP00000507780.1:n.2177-9108A>T
ENST00000683489.1:c.2291+2993A>T ENSP00000508403.1:n.2291+2993A>T
ENST00000683680.1:c.2318+2993A>T ENSP00000507223.1:n.2318+2993A>T
ENST00000684163.1:c.2203+8219A>T ENSP00000508262.1:n.2203+8219A>T
ENST00000684196.1:n.4543-9108A>T
ENST00000684325.1:c.2185+15193A>T ENSP00000508121.1:n.2185+15193A>T
ENST00000684385.1:c.2220+8219A>T ENSP00000507855.1:n.2220+8219A>T
ENST00000684497.1:c.2185+15193A>T ENSP00000507057.1:n.2185+15193A>T
ENST00000382292.9:c.5284A>T MANE Select ENSP00000371729.3:p.Ile1762Phe
ENST00000423156.2:c.2186-9108A>T ENSP00000390925.2:n.2186-9108A>T
ENST00000455470.6:c.2431+2853A>T ENSP00000406565.2:n.2431+2853A>T
ENST00000382292.7:c.5284A>T ENSP00000371729.3:p.Ile1762Phe
ENST00000382298.7:c.5284A>T ENSP00000371735.3:p.Ile1762Phe
ENST00000402364.1:c.3034A>T ENSP00000385844.1:p.Ile1012Phe
ENST00000423156.1:c.1058-9108A>T ENSP00000390925.1:n.1058-9108A>T
ENST00000455470.5:c.2129+2853A>T
NM_001278055.1:c.4843A>T NP_001264984.1:p.Ile1615Phe
NM_014363.5:c.5284A>T NP_055178.3:p.Ile1762Phe
XM_005266338.1:c.5311A>T XP_005266395.1:p.Ile1771Phe
XM_011535038.1:c.5335A>T XP_011533340.1:p.Ile1779Phe
XM_011535039.1:c.5302A>T XP_011533341.1:p.Ile1768Phe
XM_005266338.2:c.5311A>T XP_005266395.1:p.Ile1771Phe
XM_011535039.2:c.5302A>T XP_011533341.1:p.Ile1768Phe
XM_017020539.1:c.5275A>T XP_016876028.1:p.Ile1759Phe
XM_024449337.1:c.5311A>T XP_024305105.1:p.Ile1771Phe
NM_014363.6:c.5284A>T MANE Select NP_055178.3:p.Ile1762Phe
NM_001278055.2:c.4843A>T NP_001264984.1:p.Ile1615Phe