Canonical Allele Identifier: CA387505611
Community Standard Title: NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330600G>A , CM000675.2:g.23330600G>A GRCh38
NC_000013.10:g.23904739G>A , CM000675.1:g.23904739G>A GRCh37
NC_000013.9:g.22802739G>A NCBI36
NG_012342.1:g.108103C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.13276C>T MANE Select NP_055178.3:p.Gln4426Ter
ENST00000382292.9:c.13276C>T MANE Select ENSP00000371729.3:p.Gln4426Ter
NM_001278055.1:c.12835C>T NP_001264984.1:p.Gln4279Ter
NM_001278055.2:c.12835C>T NP_001264984.1:p.Gln4279Ter
NM_014363.5:c.13276C>T NP_055178.3:p.Gln4426Ter
ENST00000382292.7:c.13276C>T ENSP00000371729.3:p.Gln4426Ter
ENST00000382298.7:c.13276C>T ENSP00000371735.3:p.Gln4426Ter
ENST00000402364.1:c.11026C>T ENSP00000385844.1:p.Gln3676Ter
ENST00000423156.1:c.1058-1116C>T ENSP00000390925.1:n.1058-1116C>T
ENST00000423156.2:c.2186-1116C>T ENSP00000390925.2:n.2186-1116C>T
ENST00000455470.5:c.2130-1116C>T
ENST00000455470.6:c.2432-1116C>T ENSP00000406565.2:n.2432-1116C>T
ENST00000682775.1:c.2186-18485C>T ENSP00000508399.1:n.2186-18485C>T
ENST00000682944.1:c.13303C>T ENSP00000507173.1:p.Gln4435Ter
ENST00000683210.1:c.2185+23185C>T ENSP00000506739.1:n.2185+23185C>T
ENST00000683270.1:c.6446-1116C>T ENSP00000507624.1:n.6446-1116C>T
ENST00000683367.1:c.2177-1116C>T ENSP00000507780.1:n.2177-1116C>T
ENST00000683489.1:c.2292-648C>T ENSP00000508403.1:n.2292-648C>T
ENST00000683680.1:c.2319-648C>T ENSP00000507223.1:n.2319-648C>T
ENST00000684163.1:c.2204-1116C>T ENSP00000508262.1:n.2204-1116C>T
ENST00000684196.1:n.4543-1116C>T
ENST00000684325.1:c.2186-8926C>T ENSP00000508121.1:n.2186-8926C>T
ENST00000684385.1:c.2221-1116C>T ENSP00000507855.1:n.2221-1116C>T
ENST00000684497.1:c.2186-7956C>T ENSP00000507057.1:n.2186-7956C>T
XM_005266338.1:c.13303C>T XP_005266395.1:p.Gln4435Ter
XM_005266338.2:c.13303C>T XP_005266395.1:p.Gln4435Ter
XM_011535038.1:c.13327C>T XP_011533340.1:p.Gln4443Ter
XM_011535039.1:c.13294C>T XP_011533341.1:p.Gln4432Ter
XM_011535039.2:c.13294C>T XP_011533341.1:p.Gln4432Ter
XM_017020539.1:c.13267C>T XP_016876028.1:p.Gln4423Ter
XM_024449337.1:c.13303C>T XP_024305105.1:p.Gln4435Ter