Canonical Allele Identifier: CA387506484
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330957A>T , CM000675.2:g.23330957A>T GRCh38
NC_000013.10:g.23905096A>T , CM000675.1:g.23905096A>T GRCh37
NC_000013.9:g.22803096A>T NCBI36
NG_012342.1:g.107746T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18842T>A ENSP00000508399.1:n.2186-18842T>A
ENST00000682944.1:c.12946T>A ENSP00000507173.1:p.Leu4316Ile
ENST00000683210.1:c.2185+22828T>A ENSP00000506739.1:n.2185+22828T>A
ENST00000683270.1:c.6446-1473T>A ENSP00000507624.1:n.6446-1473T>A
ENST00000683367.1:c.2177-1473T>A ENSP00000507780.1:n.2177-1473T>A
ENST00000683489.1:c.2292-1005T>A ENSP00000508403.1:n.2292-1005T>A
ENST00000683680.1:c.2319-1005T>A ENSP00000507223.1:n.2319-1005T>A
ENST00000684163.1:c.2204-1473T>A ENSP00000508262.1:n.2204-1473T>A
ENST00000684196.1:n.4543-1473T>A
ENST00000684325.1:c.2186-9283T>A ENSP00000508121.1:n.2186-9283T>A
ENST00000684385.1:c.2221-1473T>A ENSP00000507855.1:n.2221-1473T>A
ENST00000684497.1:c.2186-8313T>A ENSP00000507057.1:n.2186-8313T>A
ENST00000382292.9:c.12919T>A MANE Select ENSP00000371729.3:p.Leu4307Ile
ENST00000423156.2:c.2186-1473T>A ENSP00000390925.2:n.2186-1473T>A
ENST00000455470.6:c.2432-1473T>A ENSP00000406565.2:n.2432-1473T>A
ENST00000382292.7:c.12919T>A ENSP00000371729.3:p.Leu4307Ile
ENST00000382298.7:c.12919T>A ENSP00000371735.3:p.Leu4307Ile
ENST00000402364.1:c.10669T>A ENSP00000385844.1:p.Leu3557Ile
ENST00000423156.1:c.1058-1473T>A ENSP00000390925.1:n.1058-1473T>A
ENST00000455470.5:c.2130-1473T>A
NM_001278055.1:c.12478T>A NP_001264984.1:p.Leu4160Ile
NM_014363.5:c.12919T>A NP_055178.3:p.Leu4307Ile
XM_005266338.1:c.12946T>A XP_005266395.1:p.Leu4316Ile
XM_011535038.1:c.12970T>A XP_011533340.1:p.Leu4324Ile
XM_011535039.1:c.12937T>A XP_011533341.1:p.Leu4313Ile
XM_005266338.2:c.12946T>A XP_005266395.1:p.Leu4316Ile
XM_011535039.2:c.12937T>A XP_011533341.1:p.Leu4313Ile
XM_017020539.1:c.12910T>A XP_016876028.1:p.Leu4304Ile
XM_024449337.1:c.12946T>A XP_024305105.1:p.Leu4316Ile
NM_014363.6:c.12919T>A MANE Select NP_055178.3:p.Leu4307Ile
NM_001278055.2:c.12478T>A NP_001264984.1:p.Leu4160Ile