Canonical Allele Identifier: CA16041597
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370756
dbSNP Id: rs747868017

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330744G>A , CM000675.2:g.23330744G>A GRCh38
NC_000013.10:g.23904883G>A , CM000675.1:g.23904883G>A GRCh37
NC_000013.9:g.22802883G>A NCBI36
NG_012342.1:g.107959C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18629C>T ENSP00000508399.1:n.2186-18629C>T
ENST00000682944.1:c.13159C>T ENSP00000507173.1:p.Arg4387Ter
ENST00000683210.1:c.2185+23041C>T ENSP00000506739.1:n.2185+23041C>T
ENST00000683270.1:c.6446-1260C>T ENSP00000507624.1:n.6446-1260C>T
ENST00000683367.1:c.2177-1260C>T ENSP00000507780.1:n.2177-1260C>T
ENST00000683489.1:c.2292-792C>T ENSP00000508403.1:n.2292-792C>T
ENST00000683680.1:c.2319-792C>T ENSP00000507223.1:n.2319-792C>T
ENST00000684163.1:c.2204-1260C>T ENSP00000508262.1:n.2204-1260C>T
ENST00000684196.1:n.4543-1260C>T
ENST00000684325.1:c.2186-9070C>T ENSP00000508121.1:n.2186-9070C>T
ENST00000684385.1:c.2221-1260C>T ENSP00000507855.1:n.2221-1260C>T
ENST00000684497.1:c.2186-8100C>T ENSP00000507057.1:n.2186-8100C>T
ENST00000382292.9:c.13132C>T MANE Select ENSP00000371729.3:p.Arg4378Ter
ENST00000423156.2:c.2186-1260C>T ENSP00000390925.2:n.2186-1260C>T
ENST00000455470.6:c.2432-1260C>T ENSP00000406565.2:n.2432-1260C>T
ENST00000382292.7:c.13132C>T ENSP00000371729.3:p.Arg4378Ter
ENST00000382298.7:c.13132C>T ENSP00000371735.3:p.Arg4378Ter
ENST00000402364.1:c.10882C>T ENSP00000385844.1:p.Arg3628Ter
ENST00000423156.1:c.1058-1260C>T ENSP00000390925.1:n.1058-1260C>T
ENST00000455470.5:c.2130-1260C>T
NM_001278055.1:c.12691C>T NP_001264984.1:p.Arg4231Ter
NM_014363.5:c.13132C>T NP_055178.3:p.Arg4378Ter
XM_005266338.1:c.13159C>T XP_005266395.1:p.Arg4387Ter
XM_011535038.1:c.13183C>T XP_011533340.1:p.Arg4395Ter
XM_011535039.1:c.13150C>T XP_011533341.1:p.Arg4384Ter
XM_005266338.2:c.13159C>T XP_005266395.1:p.Arg4387Ter
XM_011535039.2:c.13150C>T XP_011533341.1:p.Arg4384Ter
XM_017020539.1:c.13123C>T XP_016876028.1:p.Arg4375Ter
XM_024449337.1:c.13159C>T XP_024305105.1:p.Arg4387Ter
NM_014363.6:c.13132C>T MANE Select NP_055178.3:p.Arg4378Ter
NM_001278055.2:c.12691C>T NP_001264984.1:p.Arg4231Ter