Canonical Allele Identifier: CA387506448
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330951C>A , CM000675.2:g.23330951C>A GRCh38
NC_000013.10:g.23905090C>A , CM000675.1:g.23905090C>A GRCh37
NC_000013.9:g.22803090C>A NCBI36
NG_012342.1:g.107752G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18836G>T ENSP00000508399.1:n.2186-18836G>T
ENST00000682944.1:c.12952G>T ENSP00000507173.1:p.Glu4318Ter
ENST00000683210.1:c.2185+22834G>T ENSP00000506739.1:n.2185+22834G>T
ENST00000683270.1:c.6446-1467G>T ENSP00000507624.1:n.6446-1467G>T
ENST00000683367.1:c.2177-1467G>T ENSP00000507780.1:n.2177-1467G>T
ENST00000683489.1:c.2292-999G>T ENSP00000508403.1:n.2292-999G>T
ENST00000683680.1:c.2319-999G>T ENSP00000507223.1:n.2319-999G>T
ENST00000684163.1:c.2204-1467G>T ENSP00000508262.1:n.2204-1467G>T
ENST00000684196.1:n.4543-1467G>T
ENST00000684325.1:c.2186-9277G>T ENSP00000508121.1:n.2186-9277G>T
ENST00000684385.1:c.2221-1467G>T ENSP00000507855.1:n.2221-1467G>T
ENST00000684497.1:c.2186-8307G>T ENSP00000507057.1:n.2186-8307G>T
ENST00000382292.9:c.12925G>T MANE Select ENSP00000371729.3:p.Glu4309Ter
ENST00000423156.2:c.2186-1467G>T ENSP00000390925.2:n.2186-1467G>T
ENST00000455470.6:c.2432-1467G>T ENSP00000406565.2:n.2432-1467G>T
ENST00000382292.7:c.12925G>T ENSP00000371729.3:p.Glu4309Ter
ENST00000382298.7:c.12925G>T ENSP00000371735.3:p.Glu4309Ter
ENST00000402364.1:c.10675G>T ENSP00000385844.1:p.Glu3559Ter
ENST00000423156.1:c.1058-1467G>T ENSP00000390925.1:n.1058-1467G>T
ENST00000455470.5:c.2130-1467G>T
NM_001278055.1:c.12484G>T NP_001264984.1:p.Glu4162Ter
NM_014363.5:c.12925G>T NP_055178.3:p.Glu4309Ter
XM_005266338.1:c.12952G>T XP_005266395.1:p.Glu4318Ter
XM_011535038.1:c.12976G>T XP_011533340.1:p.Glu4326Ter
XM_011535039.1:c.12943G>T XP_011533341.1:p.Glu4315Ter
XM_005266338.2:c.12952G>T XP_005266395.1:p.Glu4318Ter
XM_011535039.2:c.12943G>T XP_011533341.1:p.Glu4315Ter
XM_017020539.1:c.12916G>T XP_016876028.1:p.Glu4306Ter
XM_024449337.1:c.12952G>T XP_024305105.1:p.Glu4318Ter
NM_014363.6:c.12925G>T MANE Select NP_055178.3:p.Glu4309Ter
NM_001278055.2:c.12484G>T NP_001264984.1:p.Glu4162Ter