Canonical Allele Identifier: CA6911312
Community Standard Title: NM_014363.6(SACS):c.4986G>A (p.Thr1662=)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338890C>T , CM000675.2:g.23338890C>T GRCh38
NC_000013.10:g.23913029C>T , CM000675.1:g.23913029C>T GRCh37
NC_000013.9:g.22811029C>T NCBI36
NG_012342.1:g.99813G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.4986G>A MANE Select NP_055178.3:p.Thr1662=
ENST00000382292.9:c.4986G>A MANE Select ENSP00000371729.3:p.Thr1662=
NM_001278055.1:c.4545G>A NP_001264984.1:p.Thr1515=
NM_001278055.2:c.4545G>A NP_001264984.1:p.Thr1515=
NM_014363.5:c.4986G>A NP_055178.3:p.Thr1662=
ENST00000382292.7:c.4986G>A ENSP00000371729.3:p.Thr1662=
ENST00000382298.7:c.4986G>A ENSP00000371735.3:p.Thr1662=
ENST00000402364.1:c.2736G>A ENSP00000385844.1:p.Thr912=
ENST00000423156.1:c.1058-9406G>A ENSP00000390925.1:n.1058-9406G>A
ENST00000423156.2:c.2186-9406G>A ENSP00000390925.2:n.2186-9406G>A
ENST00000455470.5:c.2129+2555G>A
ENST00000455470.6:c.2431+2555G>A ENSP00000406565.2:n.2431+2555G>A
ENST00000682775.1:c.2185+14895G>A ENSP00000508399.1:n.2185+14895G>A
ENST00000682944.1:c.5013G>A ENSP00000507173.1:p.Thr1671=
ENST00000683210.1:c.2185+14895G>A ENSP00000506739.1:n.2185+14895G>A
ENST00000683270.1:c.4977G>A ENSP00000507624.1:p.Thr1659=
ENST00000683367.1:c.2177-9406G>A ENSP00000507780.1:n.2177-9406G>A
ENST00000683489.1:c.2291+2695G>A ENSP00000508403.1:n.2291+2695G>A
ENST00000683680.1:c.2318+2695G>A ENSP00000507223.1:n.2318+2695G>A
ENST00000684163.1:c.2203+7921G>A ENSP00000508262.1:n.2203+7921G>A
ENST00000684196.1:n.4543-9406G>A
ENST00000684325.1:c.2185+14895G>A ENSP00000508121.1:n.2185+14895G>A
ENST00000684385.1:c.2220+7921G>A ENSP00000507855.1:n.2220+7921G>A
ENST00000684497.1:c.2185+14895G>A ENSP00000507057.1:n.2185+14895G>A
XM_005266338.1:c.5013G>A XP_005266395.1:p.Thr1671=
XM_005266338.2:c.5013G>A XP_005266395.1:p.Thr1671=
XM_011535038.1:c.5037G>A XP_011533340.1:p.Thr1679=
XM_011535039.1:c.5004G>A XP_011533341.1:p.Thr1668=
XM_011535039.2:c.5004G>A XP_011533341.1:p.Thr1668=
XM_017020539.1:c.4977G>A XP_016876028.1:p.Thr1659=
XM_024449337.1:c.5013G>A XP_024305105.1:p.Thr1671=