Canonical Allele Identifier: CA2078627670
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330157A= , CM000675.2:g.23330157A= GRCh38
NC_000013.10:g.23904296A= , CM000675.1:g.23904296A= GRCh37
NC_000013.9:g.22802296A= NCBI36
NG_012342.1:g.108546T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18042T= ENSP00000508399.1:n.2186-18042T=
ENST00000682944.1:c.13746T= ENSP00000507173.1:p.Asn4582=
ENST00000683210.1:c.2185+23628T= ENSP00000506739.1:n.2185+23628T=
ENST00000683270.1:c.6446-673T= ENSP00000507624.1:n.6446-673T=
ENST00000683367.1:c.2177-673T= ENSP00000507780.1:n.2177-673T=
ENST00000683489.1:c.2292-205T= ENSP00000508403.1:n.2292-205T=
ENST00000683680.1:c.2319-205T= ENSP00000507223.1:n.2319-205T=
ENST00000684163.1:c.2204-673T= ENSP00000508262.1:n.2204-673T=
ENST00000684196.1:n.4543-673T=
ENST00000684325.1:c.2186-8483T= ENSP00000508121.1:n.2186-8483T=
ENST00000684385.1:c.2221-673T= ENSP00000507855.1:n.2221-673T=
ENST00000684497.1:c.2186-7513T= ENSP00000507057.1:n.2186-7513T=
ENST00000382292.9:c.13719T= MANE Select ENSP00000371729.3:p.Asn4573=
ENST00000423156.2:c.2186-673T= ENSP00000390925.2:n.2186-673T=
ENST00000455470.6:c.2432-673T= ENSP00000406565.2:n.2432-673T=
ENST00000382292.7:c.13719T= ENSP00000371729.3:p.Asn4573=
ENST00000382298.7:c.13719T= ENSP00000371735.3:p.Asn4573=
ENST00000402364.1:c.11469T= ENSP00000385844.1:p.Asn3823=
ENST00000423156.1:c.1058-673T= ENSP00000390925.1:n.1058-673T=
ENST00000455470.5:c.2130-673T=
NM_001278055.1:c.13278T= NP_001264984.1:p.Asn4426=
NM_014363.5:c.13719T= NP_055178.3:p.Asn4573=
XM_005266338.1:c.13746T= XP_005266395.1:p.Asn4582=
XM_011535038.1:c.13770T= XP_011533340.1:p.Asn4590=
XM_011535039.1:c.13737T= XP_011533341.1:p.Asn4579=
XM_005266338.2:c.13746T= XP_005266395.1:p.Asn4582=
XM_011535039.2:c.13737T= XP_011533341.1:p.Asn4579=
XM_017020539.1:c.13710T= XP_016876028.1:p.Asn4570=
XM_024449337.1:c.13746T= XP_024305105.1:p.Asn4582=
NM_014363.6:c.13719T= MANE Select NP_055178.3:p.Asn4573=
NM_001278055.2:c.13278T= NP_001264984.1:p.Asn4426=