Canonical Allele Identifier: CA2078625897
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336633G= , CM000675.2:g.23336633G= GRCh38
NC_000013.10:g.23910772G= , CM000675.1:g.23910772G= GRCh37
NC_000013.9:g.22808772G= NCBI36
NG_012342.1:g.102070C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17152C= ENSP00000508399.1:n.2185+17152C=
ENST00000682944.1:c.7270C= ENSP00000507173.1:p.Gln2424=
ENST00000683210.1:c.2185+17152C= ENSP00000506739.1:n.2185+17152C=
ENST00000683270.1:c.6445+789C= ENSP00000507624.1:n.6445+789C=
ENST00000683367.1:c.2177-7149C= ENSP00000507780.1:n.2177-7149C=
ENST00000683489.1:c.2291+4952C= ENSP00000508403.1:n.2291+4952C=
ENST00000683680.1:c.2318+4952C= ENSP00000507223.1:n.2318+4952C=
ENST00000684163.1:c.2204-7149C= ENSP00000508262.1:n.2204-7149C=
ENST00000684196.1:n.4543-7149C=
ENST00000684325.1:c.2186-14959C= ENSP00000508121.1:n.2186-14959C=
ENST00000684385.1:c.2221-7149C= ENSP00000507855.1:n.2221-7149C=
ENST00000684497.1:c.2186-13989C= ENSP00000507057.1:n.2186-13989C=
ENST00000382292.9:c.7243C= MANE Select ENSP00000371729.3:p.Gln2415=
ENST00000423156.2:c.2186-7149C= ENSP00000390925.2:n.2186-7149C=
ENST00000455470.6:c.2431+4812C= ENSP00000406565.2:n.2431+4812C=
ENST00000382292.7:c.7243C= ENSP00000371729.3:p.Gln2415=
ENST00000382298.7:c.7243C= ENSP00000371735.3:p.Gln2415=
ENST00000402364.1:c.4993C= ENSP00000385844.1:p.Gln1665=
ENST00000423156.1:c.1058-7149C= ENSP00000390925.1:n.1058-7149C=
ENST00000455470.5:c.2129+4812C=
NM_001278055.1:c.6802C= NP_001264984.1:p.Gln2268=
NM_014363.5:c.7243C= NP_055178.3:p.Gln2415=
XM_005266338.1:c.7270C= XP_005266395.1:p.Gln2424=
XM_011535038.1:c.7294C= XP_011533340.1:p.Gln2432=
XM_011535039.1:c.7261C= XP_011533341.1:p.Gln2421=
XM_005266338.2:c.7270C= XP_005266395.1:p.Gln2424=
XM_011535039.2:c.7261C= XP_011533341.1:p.Gln2421=
XM_017020539.1:c.7234C= XP_016876028.1:p.Gln2412=
XM_024449337.1:c.7270C= XP_024305105.1:p.Gln2424=
NM_014363.6:c.7243C= MANE Select NP_055178.3:p.Gln2415=
NM_001278055.2:c.6802C= NP_001264984.1:p.Gln2268=