Canonical Allele Identifier: CA2078634240
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334243A= , CM000675.2:g.23334243A= GRCh38
NC_000013.10:g.23908382A= , CM000675.1:g.23908382A= GRCh37
NC_000013.9:g.22806382A= NCBI36
NG_012342.1:g.104460T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19542T= ENSP00000508399.1:n.2185+19542T=
ENST00000682944.1:c.9660T= ENSP00000507173.1:p.Ile3220=
ENST00000683210.1:c.2185+19542T= ENSP00000506739.1:n.2185+19542T=
ENST00000683270.1:c.6445+3179T= ENSP00000507624.1:n.6445+3179T=
ENST00000683367.1:c.2177-4759T= ENSP00000507780.1:n.2177-4759T=
ENST00000683489.1:c.2292-4291T= ENSP00000508403.1:n.2292-4291T=
ENST00000683680.1:c.2319-4291T= ENSP00000507223.1:n.2319-4291T=
ENST00000684163.1:c.2204-4759T= ENSP00000508262.1:n.2204-4759T=
ENST00000684196.1:n.4543-4759T=
ENST00000684325.1:c.2186-12569T= ENSP00000508121.1:n.2186-12569T=
ENST00000684385.1:c.2221-4759T= ENSP00000507855.1:n.2221-4759T=
ENST00000684497.1:c.2186-11599T= ENSP00000507057.1:n.2186-11599T=
ENST00000382292.9:c.9633T= MANE Select ENSP00000371729.3:p.Ile3211=
ENST00000423156.2:c.2186-4759T= ENSP00000390925.2:n.2186-4759T=
ENST00000455470.6:c.2432-4759T= ENSP00000406565.2:n.2432-4759T=
ENST00000382292.7:c.9633T= ENSP00000371729.3:p.Ile3211=
ENST00000382298.7:c.9633T= ENSP00000371735.3:p.Ile3211=
ENST00000402364.1:c.7383T= ENSP00000385844.1:p.Ile2461=
ENST00000423156.1:c.1058-4759T= ENSP00000390925.1:n.1058-4759T=
ENST00000455470.5:c.2130-4759T=
NM_001278055.1:c.9192T= NP_001264984.1:p.Ile3064=
NM_014363.5:c.9633T= NP_055178.3:p.Ile3211=
XM_005266338.1:c.9660T= XP_005266395.1:p.Ile3220=
XM_011535038.1:c.9684T= XP_011533340.1:p.Ile3228=
XM_011535039.1:c.9651T= XP_011533341.1:p.Ile3217=
XM_005266338.2:c.9660T= XP_005266395.1:p.Ile3220=
XM_011535039.2:c.9651T= XP_011533341.1:p.Ile3217=
XM_017020539.1:c.9624T= XP_016876028.1:p.Ile3208=
XM_024449337.1:c.9660T= XP_024305105.1:p.Ile3220=
NM_014363.6:c.9633T= MANE Select NP_055178.3:p.Ile3211=
NM_001278055.2:c.9192T= NP_001264984.1:p.Ile3064=