Canonical Allele Identifier: CA2078628055
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330558A= , CM000675.2:g.23330558A= GRCh38
NC_000013.10:g.23904697A= , CM000675.1:g.23904697A= GRCh37
NC_000013.9:g.22802697A= NCBI36
NG_012342.1:g.108145T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18443T= ENSP00000508399.1:n.2186-18443T=
ENST00000682944.1:c.13345T= ENSP00000507173.1:p.Ser4449=
ENST00000683210.1:c.2185+23227T= ENSP00000506739.1:n.2185+23227T=
ENST00000683270.1:c.6446-1074T= ENSP00000507624.1:n.6446-1074T=
ENST00000683367.1:c.2177-1074T= ENSP00000507780.1:n.2177-1074T=
ENST00000683489.1:c.2292-606T= ENSP00000508403.1:n.2292-606T=
ENST00000683680.1:c.2319-606T= ENSP00000507223.1:n.2319-606T=
ENST00000684163.1:c.2204-1074T= ENSP00000508262.1:n.2204-1074T=
ENST00000684196.1:n.4543-1074T=
ENST00000684325.1:c.2186-8884T= ENSP00000508121.1:n.2186-8884T=
ENST00000684385.1:c.2221-1074T= ENSP00000507855.1:n.2221-1074T=
ENST00000684497.1:c.2186-7914T= ENSP00000507057.1:n.2186-7914T=
ENST00000382292.9:c.13318T= MANE Select ENSP00000371729.3:p.Ser4440=
ENST00000423156.2:c.2186-1074T= ENSP00000390925.2:n.2186-1074T=
ENST00000455470.6:c.2432-1074T= ENSP00000406565.2:n.2432-1074T=
ENST00000382292.7:c.13318T= ENSP00000371729.3:p.Ser4440=
ENST00000382298.7:c.13318T= ENSP00000371735.3:p.Ser4440=
ENST00000402364.1:c.11068T= ENSP00000385844.1:p.Ser3690=
ENST00000423156.1:c.1058-1074T= ENSP00000390925.1:n.1058-1074T=
ENST00000455470.5:c.2130-1074T=
NM_001278055.1:c.12877T= NP_001264984.1:p.Ser4293=
NM_014363.5:c.13318T= NP_055178.3:p.Ser4440=
XM_005266338.1:c.13345T= XP_005266395.1:p.Ser4449=
XM_011535038.1:c.13369T= XP_011533340.1:p.Ser4457=
XM_011535039.1:c.13336T= XP_011533341.1:p.Ser4446=
XM_005266338.2:c.13345T= XP_005266395.1:p.Ser4449=
XM_011535039.2:c.13336T= XP_011533341.1:p.Ser4446=
XM_017020539.1:c.13309T= XP_016876028.1:p.Ser4437=
XM_024449337.1:c.13345T= XP_024305105.1:p.Ser4449=
NM_014363.6:c.13318T= MANE Select NP_055178.3:p.Ser4440=
NM_001278055.2:c.12877T= NP_001264984.1:p.Ser4293=