Canonical Allele Identifier: CA2078627762
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330291A= , CM000675.2:g.23330291A= GRCh38
NC_000013.10:g.23904430A= , CM000675.1:g.23904430A= GRCh37
NC_000013.9:g.22802430A= NCBI36
NG_012342.1:g.108412T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18176T= ENSP00000508399.1:n.2186-18176T=
ENST00000682944.1:c.13612T= ENSP00000507173.1:p.Tyr4538=
ENST00000683210.1:c.2185+23494T= ENSP00000506739.1:n.2185+23494T=
ENST00000683270.1:c.6446-807T= ENSP00000507624.1:n.6446-807T=
ENST00000683367.1:c.2177-807T= ENSP00000507780.1:n.2177-807T=
ENST00000683489.1:c.2292-339T= ENSP00000508403.1:n.2292-339T=
ENST00000683680.1:c.2319-339T= ENSP00000507223.1:n.2319-339T=
ENST00000684163.1:c.2204-807T= ENSP00000508262.1:n.2204-807T=
ENST00000684196.1:n.4543-807T=
ENST00000684325.1:c.2186-8617T= ENSP00000508121.1:n.2186-8617T=
ENST00000684385.1:c.2221-807T= ENSP00000507855.1:n.2221-807T=
ENST00000684497.1:c.2186-7647T= ENSP00000507057.1:n.2186-7647T=
ENST00000382292.9:c.13585T= MANE Select ENSP00000371729.3:p.Tyr4529=
ENST00000423156.2:c.2186-807T= ENSP00000390925.2:n.2186-807T=
ENST00000455470.6:c.2432-807T= ENSP00000406565.2:n.2432-807T=
ENST00000382292.7:c.13585T= ENSP00000371729.3:p.Tyr4529=
ENST00000382298.7:c.13585T= ENSP00000371735.3:p.Tyr4529=
ENST00000402364.1:c.11335T= ENSP00000385844.1:p.Tyr3779=
ENST00000423156.1:c.1058-807T= ENSP00000390925.1:n.1058-807T=
ENST00000455470.5:c.2130-807T=
NM_001278055.1:c.13144T= NP_001264984.1:p.Tyr4382=
NM_014363.5:c.13585T= NP_055178.3:p.Tyr4529=
XM_005266338.1:c.13612T= XP_005266395.1:p.Tyr4538=
XM_011535038.1:c.13636T= XP_011533340.1:p.Tyr4546=
XM_011535039.1:c.13603T= XP_011533341.1:p.Tyr4535=
XM_005266338.2:c.13612T= XP_005266395.1:p.Tyr4538=
XM_011535039.2:c.13603T= XP_011533341.1:p.Tyr4535=
XM_017020539.1:c.13576T= XP_016876028.1:p.Tyr4526=
XM_024449337.1:c.13612T= XP_024305105.1:p.Tyr4538=
NM_014363.6:c.13585T= MANE Select NP_055178.3:p.Tyr4529=
NM_001278055.2:c.13144T= NP_001264984.1:p.Tyr4382=