Canonical Allele Identifier: CA6911680
Community Standard Title: NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341384T>C , CM000675.2:g.23341384T>C GRCh38
NC_000013.10:g.23915523T>C , CM000675.1:g.23915523T>C GRCh37
NC_000013.9:g.22813523T>C NCBI36
NG_012342.1:g.97319A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.2492A>G MANE Select NP_055178.3:p.Glu831Gly
ENST00000382292.9:c.2492A>G MANE Select ENSP00000371729.3:p.Glu831Gly
NM_001278055.1:c.2051A>G NP_001264984.1:p.Glu684Gly
NM_001278055.2:c.2051A>G NP_001264984.1:p.Glu684Gly
NM_014363.5:c.2492A>G NP_055178.3:p.Glu831Gly
ENST00000382292.7:c.2492A>G ENSP00000371729.3:p.Glu831Gly
ENST00000382298.7:c.2492A>G ENSP00000371735.3:p.Glu831Gly
ENST00000402364.1:c.242A>G ENSP00000385844.1:p.Glu81Gly
ENST00000423156.1:c.1058-11900A>G ENSP00000390925.1:n.1058-11900A>G
ENST00000423156.2:c.2186-11900A>G ENSP00000390925.2:n.2186-11900A>G
ENST00000455470.5:c.2129+61A>G
ENST00000455470.6:c.2431+61A>G ENSP00000406565.2:n.2431+61A>G
ENST00000682775.1:c.2185+12401A>G ENSP00000508399.1:n.2185+12401A>G
ENST00000682944.1:c.2519A>G ENSP00000507173.1:p.Glu840Gly
ENST00000683210.1:c.2185+12401A>G ENSP00000506739.1:n.2185+12401A>G
ENST00000683270.1:c.2483A>G ENSP00000507624.1:p.Glu828Gly
ENST00000683367.1:c.2177-11900A>G ENSP00000507780.1:n.2177-11900A>G
ENST00000683489.1:c.2291+201A>G ENSP00000508403.1:n.2291+201A>G
ENST00000683680.1:c.2318+201A>G ENSP00000507223.1:n.2318+201A>G
ENST00000684163.1:c.2203+5427A>G ENSP00000508262.1:n.2203+5427A>G
ENST00000684196.1:n.4543-11900A>G
ENST00000684325.1:c.2185+12401A>G ENSP00000508121.1:n.2185+12401A>G
ENST00000684385.1:c.2220+5427A>G ENSP00000507855.1:n.2220+5427A>G
ENST00000684497.1:c.2185+12401A>G ENSP00000507057.1:n.2185+12401A>G
XM_005266338.1:c.2519A>G XP_005266395.1:p.Glu840Gly
XM_005266338.2:c.2519A>G XP_005266395.1:p.Glu840Gly
XM_011535038.1:c.2543A>G XP_011533340.1:p.Glu848Gly
XM_011535039.1:c.2510A>G XP_011533341.1:p.Glu837Gly
XM_011535039.2:c.2510A>G XP_011533341.1:p.Glu837Gly
XM_017020539.1:c.2483A>G XP_016876028.1:p.Glu828Gly
XM_024449337.1:c.2519A>G XP_024305105.1:p.Glu840Gly