Canonical Allele Identifier: CA483158059

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23905187A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331048A>T , CM000675.2:g.23331048A>T	GRCh38
NC_000013.10:g.23905187A>T , CM000675.1:g.23905187A>T	GRCh37
NC_000013.9:g.22803187A>T	NCBI36
NG_012342.1:g.107655T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18933T>A	ENSP00000508399.1:n.2186-18933T>A
ENST00000682944.1:c.12855T>A	ENSP00000507173.1:p.Ile4285=
ENST00000683210.1:c.2185+22737T>A	ENSP00000506739.1:n.2185+22737T>A
ENST00000683270.1:c.6446-1564T>A	ENSP00000507624.1:n.6446-1564T>A
ENST00000683367.1:c.2177-1564T>A	ENSP00000507780.1:n.2177-1564T>A
ENST00000683489.1:c.2292-1096T>A	ENSP00000508403.1:n.2292-1096T>A
ENST00000683680.1:c.2319-1096T>A	ENSP00000507223.1:n.2319-1096T>A
ENST00000684163.1:c.2204-1564T>A	ENSP00000508262.1:n.2204-1564T>A
ENST00000684196.1:n.4543-1564T>A
ENST00000684325.1:c.2186-9374T>A	ENSP00000508121.1:n.2186-9374T>A
ENST00000684385.1:c.2221-1564T>A	ENSP00000507855.1:n.2221-1564T>A
ENST00000684497.1:c.2186-8404T>A	ENSP00000507057.1:n.2186-8404T>A
ENST00000382292.9:c.12828T>A MANE Select	ENSP00000371729.3:p.Ile4276=
ENST00000423156.2:c.2186-1564T>A	ENSP00000390925.2:n.2186-1564T>A
ENST00000455470.6:c.2432-1564T>A	ENSP00000406565.2:n.2432-1564T>A
ENST00000382292.7:c.12828T>A	ENSP00000371729.3:p.Ile4276=
ENST00000382298.7:c.12828T>A	ENSP00000371735.3:p.Ile4276=
ENST00000402364.1:c.10578T>A	ENSP00000385844.1:p.Ile3526=
ENST00000423156.1:c.1058-1564T>A	ENSP00000390925.1:n.1058-1564T>A
ENST00000455470.5:c.2130-1564T>A
NM_001278055.1:c.12387T>A	NP_001264984.1:p.Ile4129=
NM_014363.5:c.12828T>A	NP_055178.3:p.Ile4276=
XM_005266338.1:c.12855T>A	XP_005266395.1:p.Ile4285=
XM_011535038.1:c.12879T>A	XP_011533340.1:p.Ile4293=
XM_011535039.1:c.12846T>A	XP_011533341.1:p.Ile4282=
XM_005266338.2:c.12855T>A	XP_005266395.1:p.Ile4285=
XM_011535039.2:c.12846T>A	XP_011533341.1:p.Ile4282=
XM_017020539.1:c.12819T>A	XP_016876028.1:p.Ile4273=
XM_024449337.1:c.12855T>A	XP_024305105.1:p.Ile4285=
NM_014363.6:c.12828T>A MANE Select	NP_055178.3:p.Ile4276=
NM_001278055.2:c.12387T>A	NP_001264984.1:p.Ile4129=