Canonical Allele Identifier: CA2078633549
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333795T= , CM000675.2:g.23333795T= GRCh38
NC_000013.10:g.23907934T= , CM000675.1:g.23907934T= GRCh37
NC_000013.9:g.22805934T= NCBI36
NG_012342.1:g.104908A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19990A= ENSP00000508399.1:n.2185+19990A=
ENST00000682944.1:c.10108A= ENSP00000507173.1:p.Ile3370=
ENST00000683210.1:c.2185+19990A= ENSP00000506739.1:n.2185+19990A=
ENST00000683270.1:c.6445+3627A= ENSP00000507624.1:n.6445+3627A=
ENST00000683367.1:c.2177-4311A= ENSP00000507780.1:n.2177-4311A=
ENST00000683489.1:c.2292-3843A= ENSP00000508403.1:n.2292-3843A=
ENST00000683680.1:c.2319-3843A= ENSP00000507223.1:n.2319-3843A=
ENST00000684163.1:c.2204-4311A= ENSP00000508262.1:n.2204-4311A=
ENST00000684196.1:n.4543-4311A=
ENST00000684325.1:c.2186-12121A= ENSP00000508121.1:n.2186-12121A=
ENST00000684385.1:c.2221-4311A= ENSP00000507855.1:n.2221-4311A=
ENST00000684497.1:c.2186-11151A= ENSP00000507057.1:n.2186-11151A=
ENST00000382292.9:c.10081A= MANE Select ENSP00000371729.3:p.Ile3361=
ENST00000423156.2:c.2186-4311A= ENSP00000390925.2:n.2186-4311A=
ENST00000455470.6:c.2432-4311A= ENSP00000406565.2:n.2432-4311A=
ENST00000382292.7:c.10081A= ENSP00000371729.3:p.Ile3361=
ENST00000382298.7:c.10081A= ENSP00000371735.3:p.Ile3361=
ENST00000402364.1:c.7831A= ENSP00000385844.1:p.Ile2611=
ENST00000423156.1:c.1058-4311A= ENSP00000390925.1:n.1058-4311A=
ENST00000455470.5:c.2130-4311A=
NM_001278055.1:c.9640A= NP_001264984.1:p.Ile3214=
NM_014363.5:c.10081A= NP_055178.3:p.Ile3361=
XM_005266338.1:c.10108A= XP_005266395.1:p.Ile3370=
XM_011535038.1:c.10132A= XP_011533340.1:p.Ile3378=
XM_011535039.1:c.10099A= XP_011533341.1:p.Ile3367=
XM_005266338.2:c.10108A= XP_005266395.1:p.Ile3370=
XM_011535039.2:c.10099A= XP_011533341.1:p.Ile3367=
XM_017020539.1:c.10072A= XP_016876028.1:p.Ile3358=
XM_024449337.1:c.10108A= XP_024305105.1:p.Ile3370=
NM_014363.6:c.10081A= MANE Select NP_055178.3:p.Ile3361=
NM_001278055.2:c.9640A= NP_001264984.1:p.Ile3214=