Canonical Allele Identifier: CA387513147
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333858T>G , CM000675.2:g.23333858T>G GRCh38
NC_000013.10:g.23907997T>G , CM000675.1:g.23907997T>G GRCh37
NC_000013.9:g.22805997T>G NCBI36
NG_012342.1:g.104845A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19927A>C ENSP00000508399.1:n.2185+19927A>C
ENST00000682944.1:c.10045A>C ENSP00000507173.1:p.Lys3349Gln
ENST00000683210.1:c.2185+19927A>C ENSP00000506739.1:n.2185+19927A>C
ENST00000683270.1:c.6445+3564A>C ENSP00000507624.1:n.6445+3564A>C
ENST00000683367.1:c.2177-4374A>C ENSP00000507780.1:n.2177-4374A>C
ENST00000683489.1:c.2292-3906A>C ENSP00000508403.1:n.2292-3906A>C
ENST00000683680.1:c.2319-3906A>C ENSP00000507223.1:n.2319-3906A>C
ENST00000684163.1:c.2204-4374A>C ENSP00000508262.1:n.2204-4374A>C
ENST00000684196.1:n.4543-4374A>C
ENST00000684325.1:c.2186-12184A>C ENSP00000508121.1:n.2186-12184A>C
ENST00000684385.1:c.2221-4374A>C ENSP00000507855.1:n.2221-4374A>C
ENST00000684497.1:c.2186-11214A>C ENSP00000507057.1:n.2186-11214A>C
ENST00000382292.9:c.10018A>C MANE Select ENSP00000371729.3:p.Lys3340Gln
ENST00000423156.2:c.2186-4374A>C ENSP00000390925.2:n.2186-4374A>C
ENST00000455470.6:c.2432-4374A>C ENSP00000406565.2:n.2432-4374A>C
ENST00000382292.7:c.10018A>C ENSP00000371729.3:p.Lys3340Gln
ENST00000382298.7:c.10018A>C ENSP00000371735.3:p.Lys3340Gln
ENST00000402364.1:c.7768A>C ENSP00000385844.1:p.Lys2590Gln
ENST00000423156.1:c.1058-4374A>C ENSP00000390925.1:n.1058-4374A>C
ENST00000455470.5:c.2130-4374A>C
NM_001278055.1:c.9577A>C NP_001264984.1:p.Lys3193Gln
NM_014363.5:c.10018A>C NP_055178.3:p.Lys3340Gln
XM_005266338.1:c.10045A>C XP_005266395.1:p.Lys3349Gln
XM_011535038.1:c.10069A>C XP_011533340.1:p.Lys3357Gln
XM_011535039.1:c.10036A>C XP_011533341.1:p.Lys3346Gln
XM_005266338.2:c.10045A>C XP_005266395.1:p.Lys3349Gln
XM_011535039.2:c.10036A>C XP_011533341.1:p.Lys3346Gln
XM_017020539.1:c.10009A>C XP_016876028.1:p.Lys3337Gln
XM_024449337.1:c.10045A>C XP_024305105.1:p.Lys3349Gln
NM_014363.6:c.10018A>C MANE Select NP_055178.3:p.Lys3340Gln
NM_001278055.2:c.9577A>C NP_001264984.1:p.Lys3193Gln