Canonical Allele Identifier: CA2078628837
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330954T= , CM000675.2:g.23330954T= GRCh38
NC_000013.10:g.23905093T= , CM000675.1:g.23905093T= GRCh37
NC_000013.9:g.22803093T= NCBI36
NG_012342.1:g.107749A=

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18839A= ENSP00000508399.1:n.2186-18839A=
ENST00000682944.1:c.12949A= ENSP00000507173.1:p.Lys4317=
ENST00000683210.1:c.2185+22831A= ENSP00000506739.1:n.2185+22831A=
ENST00000683270.1:c.6446-1470A= ENSP00000507624.1:n.6446-1470A=
ENST00000683367.1:c.2177-1470A= ENSP00000507780.1:n.2177-1470A=
ENST00000683489.1:c.2292-1002A= ENSP00000508403.1:n.2292-1002A=
ENST00000683680.1:c.2319-1002A= ENSP00000507223.1:n.2319-1002A=
ENST00000684163.1:c.2204-1470A= ENSP00000508262.1:n.2204-1470A=
ENST00000684196.1:n.4543-1470A=
ENST00000684325.1:c.2186-9280A= ENSP00000508121.1:n.2186-9280A=
ENST00000684385.1:c.2221-1470A= ENSP00000507855.1:n.2221-1470A=
ENST00000684497.1:c.2186-8310A= ENSP00000507057.1:n.2186-8310A=
ENST00000382292.9:c.12922A= MANE Select ENSP00000371729.3:p.Lys4308=
ENST00000423156.2:c.2186-1470A= ENSP00000390925.2:n.2186-1470A=
ENST00000455470.6:c.2432-1470A= ENSP00000406565.2:n.2432-1470A=
ENST00000382292.7:c.12922A= ENSP00000371729.3:p.Lys4308=
ENST00000382298.7:c.12922A= ENSP00000371735.3:p.Lys4308=
ENST00000402364.1:c.10672A= ENSP00000385844.1:p.Lys3558=
ENST00000423156.1:c.1058-1470A= ENSP00000390925.1:n.1058-1470A=
ENST00000455470.5:c.2130-1470A=
NM_001278055.1:c.12481A= NP_001264984.1:p.Lys4161=
NM_014363.5:c.12922A= NP_055178.3:p.Lys4308=
XM_005266338.1:c.12949A= XP_005266395.1:p.Lys4317=
XM_011535038.1:c.12973A= XP_011533340.1:p.Lys4325=
XM_011535039.1:c.12940A= XP_011533341.1:p.Lys4314=
XM_005266338.2:c.12949A= XP_005266395.1:p.Lys4317=
XM_011535039.2:c.12940A= XP_011533341.1:p.Lys4314=
XM_017020539.1:c.12913A= XP_016876028.1:p.Lys4305=
XM_024449337.1:c.12949A= XP_024305105.1:p.Lys4317=
NM_014363.6:c.12922A= MANE Select NP_055178.3:p.Lys4308=
NM_001278055.2:c.12481A= NP_001264984.1:p.Lys4161=