Canonical Allele Identifier: CA6911255
Community Standard Title: NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338508C>T , CM000675.2:g.23338508C>T GRCh38
NC_000013.10:g.23912647C>T , CM000675.1:g.23912647C>T GRCh37
NC_000013.9:g.22810647C>T NCBI36
NG_012342.1:g.100195G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.5368G>A MANE Select NP_055178.3:p.Ala1790Thr
ENST00000382292.9:c.5368G>A MANE Select ENSP00000371729.3:p.Ala1790Thr
NM_001278055.1:c.4927G>A NP_001264984.1:p.Ala1643Thr
NM_001278055.2:c.4927G>A NP_001264984.1:p.Ala1643Thr
NM_014363.5:c.5368G>A NP_055178.3:p.Ala1790Thr
ENST00000382292.7:c.5368G>A ENSP00000371729.3:p.Ala1790Thr
ENST00000382298.7:c.5368G>A ENSP00000371735.3:p.Ala1790Thr
ENST00000402364.1:c.3118G>A ENSP00000385844.1:p.Ala1040Thr
ENST00000423156.1:c.1058-9024G>A ENSP00000390925.1:n.1058-9024G>A
ENST00000423156.2:c.2186-9024G>A ENSP00000390925.2:n.2186-9024G>A
ENST00000455470.5:c.2129+2937G>A
ENST00000455470.6:c.2431+2937G>A ENSP00000406565.2:n.2431+2937G>A
ENST00000682775.1:c.2185+15277G>A ENSP00000508399.1:n.2185+15277G>A
ENST00000682944.1:c.5395G>A ENSP00000507173.1:p.Ala1799Thr
ENST00000683210.1:c.2185+15277G>A ENSP00000506739.1:n.2185+15277G>A
ENST00000683270.1:c.5359G>A ENSP00000507624.1:p.Ala1787Thr
ENST00000683367.1:c.2177-9024G>A ENSP00000507780.1:n.2177-9024G>A
ENST00000683489.1:c.2291+3077G>A ENSP00000508403.1:n.2291+3077G>A
ENST00000683680.1:c.2318+3077G>A ENSP00000507223.1:n.2318+3077G>A
ENST00000684163.1:c.2203+8303G>A ENSP00000508262.1:n.2203+8303G>A
ENST00000684196.1:n.4543-9024G>A
ENST00000684325.1:c.2185+15277G>A ENSP00000508121.1:n.2185+15277G>A
ENST00000684385.1:c.2220+8303G>A ENSP00000507855.1:n.2220+8303G>A
ENST00000684497.1:c.2185+15277G>A ENSP00000507057.1:n.2185+15277G>A
XM_005266338.1:c.5395G>A XP_005266395.1:p.Ala1799Thr
XM_005266338.2:c.5395G>A XP_005266395.1:p.Ala1799Thr
XM_011535038.1:c.5419G>A XP_011533340.1:p.Ala1807Thr
XM_011535039.1:c.5386G>A XP_011533341.1:p.Ala1796Thr
XM_011535039.2:c.5386G>A XP_011533341.1:p.Ala1796Thr
XM_017020539.1:c.5359G>A XP_016876028.1:p.Ala1787Thr
XM_024449337.1:c.5395G>A XP_024305105.1:p.Ala1799Thr