Canonical Allele Identifier: CA2078625220
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336341T= , CM000675.2:g.23336341T= GRCh38
NC_000013.10:g.23910480T= , CM000675.1:g.23910480T= GRCh37
NC_000013.9:g.22808480T= NCBI36
NG_012342.1:g.102362A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17444A= ENSP00000508399.1:n.2185+17444A=
ENST00000682944.1:c.7562A= ENSP00000507173.1:p.Asn2521=
ENST00000683210.1:c.2185+17444A= ENSP00000506739.1:n.2185+17444A=
ENST00000683270.1:c.6445+1081A= ENSP00000507624.1:n.6445+1081A=
ENST00000683367.1:c.2177-6857A= ENSP00000507780.1:n.2177-6857A=
ENST00000683489.1:c.2291+5244A= ENSP00000508403.1:n.2291+5244A=
ENST00000683680.1:c.2318+5244A= ENSP00000507223.1:n.2318+5244A=
ENST00000684163.1:c.2204-6857A= ENSP00000508262.1:n.2204-6857A=
ENST00000684196.1:n.4543-6857A=
ENST00000684325.1:c.2186-14667A= ENSP00000508121.1:n.2186-14667A=
ENST00000684385.1:c.2221-6857A= ENSP00000507855.1:n.2221-6857A=
ENST00000684497.1:c.2186-13697A= ENSP00000507057.1:n.2186-13697A=
ENST00000382292.9:c.7535A= MANE Select ENSP00000371729.3:p.Asn2512=
ENST00000423156.2:c.2186-6857A= ENSP00000390925.2:n.2186-6857A=
ENST00000455470.6:c.2431+5104A= ENSP00000406565.2:n.2431+5104A=
ENST00000382292.7:c.7535A= ENSP00000371729.3:p.Asn2512=
ENST00000382298.7:c.7535A= ENSP00000371735.3:p.Asn2512=
ENST00000402364.1:c.5285A= ENSP00000385844.1:p.Asn1762=
ENST00000423156.1:c.1058-6857A= ENSP00000390925.1:n.1058-6857A=
ENST00000455470.5:c.2129+5104A=
NM_001278055.1:c.7094A= NP_001264984.1:p.Asn2365=
NM_014363.5:c.7535A= NP_055178.3:p.Asn2512=
XM_005266338.1:c.7562A= XP_005266395.1:p.Asn2521=
XM_011535038.1:c.7586A= XP_011533340.1:p.Asn2529=
XM_011535039.1:c.7553A= XP_011533341.1:p.Asn2518=
XM_005266338.2:c.7562A= XP_005266395.1:p.Asn2521=
XM_011535039.2:c.7553A= XP_011533341.1:p.Asn2518=
XM_017020539.1:c.7526A= XP_016876028.1:p.Asn2509=
XM_024449337.1:c.7562A= XP_024305105.1:p.Asn2521=
NM_014363.6:c.7535A= MANE Select NP_055178.3:p.Asn2512=
NM_001278055.2:c.7094A= NP_001264984.1:p.Asn2365=