Canonical Allele Identifier: CA387506202
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330864G>T , CM000675.2:g.23330864G>T GRCh38
NC_000013.10:g.23905003G>T , CM000675.1:g.23905003G>T GRCh37
NC_000013.9:g.22803003G>T NCBI36
NG_012342.1:g.107839C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18749C>A ENSP00000508399.1:n.2186-18749C>A
ENST00000682944.1:c.13039C>A ENSP00000507173.1:p.Pro4347Thr
ENST00000683210.1:c.2185+22921C>A ENSP00000506739.1:n.2185+22921C>A
ENST00000683270.1:c.6446-1380C>A ENSP00000507624.1:n.6446-1380C>A
ENST00000683367.1:c.2177-1380C>A ENSP00000507780.1:n.2177-1380C>A
ENST00000683489.1:c.2292-912C>A ENSP00000508403.1:n.2292-912C>A
ENST00000683680.1:c.2319-912C>A ENSP00000507223.1:n.2319-912C>A
ENST00000684163.1:c.2204-1380C>A ENSP00000508262.1:n.2204-1380C>A
ENST00000684196.1:n.4543-1380C>A
ENST00000684325.1:c.2186-9190C>A ENSP00000508121.1:n.2186-9190C>A
ENST00000684385.1:c.2221-1380C>A ENSP00000507855.1:n.2221-1380C>A
ENST00000684497.1:c.2186-8220C>A ENSP00000507057.1:n.2186-8220C>A
ENST00000382292.9:c.13012C>A MANE Select ENSP00000371729.3:p.Pro4338Thr
ENST00000423156.2:c.2186-1380C>A ENSP00000390925.2:n.2186-1380C>A
ENST00000455470.6:c.2432-1380C>A ENSP00000406565.2:n.2432-1380C>A
ENST00000382292.7:c.13012C>A ENSP00000371729.3:p.Pro4338Thr
ENST00000382298.7:c.13012C>A ENSP00000371735.3:p.Pro4338Thr
ENST00000402364.1:c.10762C>A ENSP00000385844.1:p.Pro3588Thr
ENST00000423156.1:c.1058-1380C>A ENSP00000390925.1:n.1058-1380C>A
ENST00000455470.5:c.2130-1380C>A
NM_001278055.1:c.12571C>A NP_001264984.1:p.Pro4191Thr
NM_014363.5:c.13012C>A NP_055178.3:p.Pro4338Thr
XM_005266338.1:c.13039C>A XP_005266395.1:p.Pro4347Thr
XM_011535038.1:c.13063C>A XP_011533340.1:p.Pro4355Thr
XM_011535039.1:c.13030C>A XP_011533341.1:p.Pro4344Thr
XM_005266338.2:c.13039C>A XP_005266395.1:p.Pro4347Thr
XM_011535039.2:c.13030C>A XP_011533341.1:p.Pro4344Thr
XM_017020539.1:c.13003C>A XP_016876028.1:p.Pro4335Thr
XM_024449337.1:c.13039C>A XP_024305105.1:p.Pro4347Thr
NM_014363.6:c.13012C>A MANE Select NP_055178.3:p.Pro4338Thr
NM_001278055.2:c.12571C>A NP_001264984.1:p.Pro4191Thr