Canonical Allele Identifier: CA387513427
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333984C>T , CM000675.2:g.23333984C>T GRCh38
NC_000013.10:g.23908123C>T , CM000675.1:g.23908123C>T GRCh37
NC_000013.9:g.22806123C>T NCBI36
NG_012342.1:g.104719G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19801G>A ENSP00000508399.1:n.2185+19801G>A
ENST00000682944.1:c.9919G>A ENSP00000507173.1:p.Gly3307Arg
ENST00000683210.1:c.2185+19801G>A ENSP00000506739.1:n.2185+19801G>A
ENST00000683270.1:c.6445+3438G>A ENSP00000507624.1:n.6445+3438G>A
ENST00000683367.1:c.2177-4500G>A ENSP00000507780.1:n.2177-4500G>A
ENST00000683489.1:c.2292-4032G>A ENSP00000508403.1:n.2292-4032G>A
ENST00000683680.1:c.2319-4032G>A ENSP00000507223.1:n.2319-4032G>A
ENST00000684163.1:c.2204-4500G>A ENSP00000508262.1:n.2204-4500G>A
ENST00000684196.1:n.4543-4500G>A
ENST00000684325.1:c.2186-12310G>A ENSP00000508121.1:n.2186-12310G>A
ENST00000684385.1:c.2221-4500G>A ENSP00000507855.1:n.2221-4500G>A
ENST00000684497.1:c.2186-11340G>A ENSP00000507057.1:n.2186-11340G>A
ENST00000382292.9:c.9892G>A MANE Select ENSP00000371729.3:p.Gly3298Arg
ENST00000423156.2:c.2186-4500G>A ENSP00000390925.2:n.2186-4500G>A
ENST00000455470.6:c.2432-4500G>A ENSP00000406565.2:n.2432-4500G>A
ENST00000382292.7:c.9892G>A ENSP00000371729.3:p.Gly3298Arg
ENST00000382298.7:c.9892G>A ENSP00000371735.3:p.Gly3298Arg
ENST00000402364.1:c.7642G>A ENSP00000385844.1:p.Gly2548Arg
ENST00000423156.1:c.1058-4500G>A ENSP00000390925.1:n.1058-4500G>A
ENST00000455470.5:c.2130-4500G>A
NM_001278055.1:c.9451G>A NP_001264984.1:p.Gly3151Arg
NM_014363.5:c.9892G>A NP_055178.3:p.Gly3298Arg
XM_005266338.1:c.9919G>A XP_005266395.1:p.Gly3307Arg
XM_011535038.1:c.9943G>A XP_011533340.1:p.Gly3315Arg
XM_011535039.1:c.9910G>A XP_011533341.1:p.Gly3304Arg
XM_005266338.2:c.9919G>A XP_005266395.1:p.Gly3307Arg
XM_011535039.2:c.9910G>A XP_011533341.1:p.Gly3304Arg
XM_017020539.1:c.9883G>A XP_016876028.1:p.Gly3295Arg
XM_024449337.1:c.9919G>A XP_024305105.1:p.Gly3307Arg
NM_014363.6:c.9892G>A MANE Select NP_055178.3:p.Gly3298Arg
NM_001278055.2:c.9451G>A NP_001264984.1:p.Gly3151Arg