Canonical Allele Identifier: CA2078629104
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331063A= , CM000675.2:g.23331063A= GRCh38
NC_000013.10:g.23905202A= , CM000675.1:g.23905202A= GRCh37
NC_000013.9:g.22803202A= NCBI36
NG_012342.1:g.107640T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18948T= ENSP00000508399.1:n.2186-18948T=
ENST00000682944.1:c.12840T= ENSP00000507173.1:p.Pro4280=
ENST00000683210.1:c.2185+22722T= ENSP00000506739.1:n.2185+22722T=
ENST00000683270.1:c.6446-1579T= ENSP00000507624.1:n.6446-1579T=
ENST00000683367.1:c.2177-1579T= ENSP00000507780.1:n.2177-1579T=
ENST00000683489.1:c.2292-1111T= ENSP00000508403.1:n.2292-1111T=
ENST00000683680.1:c.2319-1111T= ENSP00000507223.1:n.2319-1111T=
ENST00000684163.1:c.2204-1579T= ENSP00000508262.1:n.2204-1579T=
ENST00000684196.1:n.4543-1579T=
ENST00000684325.1:c.2186-9389T= ENSP00000508121.1:n.2186-9389T=
ENST00000684385.1:c.2221-1579T= ENSP00000507855.1:n.2221-1579T=
ENST00000684497.1:c.2186-8419T= ENSP00000507057.1:n.2186-8419T=
ENST00000382292.9:c.12813T= MANE Select ENSP00000371729.3:p.Pro4271=
ENST00000423156.2:c.2186-1579T= ENSP00000390925.2:n.2186-1579T=
ENST00000455470.6:c.2432-1579T= ENSP00000406565.2:n.2432-1579T=
ENST00000382292.7:c.12813T= ENSP00000371729.3:p.Pro4271=
ENST00000382298.7:c.12813T= ENSP00000371735.3:p.Pro4271=
ENST00000402364.1:c.10563T= ENSP00000385844.1:p.Pro3521=
ENST00000423156.1:c.1058-1579T= ENSP00000390925.1:n.1058-1579T=
ENST00000455470.5:c.2130-1579T=
NM_001278055.1:c.12372T= NP_001264984.1:p.Pro4124=
NM_014363.5:c.12813T= NP_055178.3:p.Pro4271=
XM_005266338.1:c.12840T= XP_005266395.1:p.Pro4280=
XM_011535038.1:c.12864T= XP_011533340.1:p.Pro4288=
XM_011535039.1:c.12831T= XP_011533341.1:p.Pro4277=
XM_005266338.2:c.12840T= XP_005266395.1:p.Pro4280=
XM_011535039.2:c.12831T= XP_011533341.1:p.Pro4277=
XM_017020539.1:c.12804T= XP_016876028.1:p.Pro4268=
XM_024449337.1:c.12840T= XP_024305105.1:p.Pro4280=
NM_014363.6:c.12813T= MANE Select NP_055178.3:p.Pro4271=
NM_001278055.2:c.12372T= NP_001264984.1:p.Pro4124=