Canonical Allele Identifier: CA483158029

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23905181A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331042A>T , CM000675.2:g.23331042A>T	GRCh38
NC_000013.10:g.23905181A>T , CM000675.1:g.23905181A>T	GRCh37
NC_000013.9:g.22803181A>T	NCBI36
NG_012342.1:g.107661T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18927T>A	ENSP00000508399.1:n.2186-18927T>A
ENST00000682944.1:c.12861T>A	ENSP00000507173.1:p.Pro4287=
ENST00000683210.1:c.2185+22743T>A	ENSP00000506739.1:n.2185+22743T>A
ENST00000683270.1:c.6446-1558T>A	ENSP00000507624.1:n.6446-1558T>A
ENST00000683367.1:c.2177-1558T>A	ENSP00000507780.1:n.2177-1558T>A
ENST00000683489.1:c.2292-1090T>A	ENSP00000508403.1:n.2292-1090T>A
ENST00000683680.1:c.2319-1090T>A	ENSP00000507223.1:n.2319-1090T>A
ENST00000684163.1:c.2204-1558T>A	ENSP00000508262.1:n.2204-1558T>A
ENST00000684196.1:n.4543-1558T>A
ENST00000684325.1:c.2186-9368T>A	ENSP00000508121.1:n.2186-9368T>A
ENST00000684385.1:c.2221-1558T>A	ENSP00000507855.1:n.2221-1558T>A
ENST00000684497.1:c.2186-8398T>A	ENSP00000507057.1:n.2186-8398T>A
ENST00000382292.9:c.12834T>A MANE Select	ENSP00000371729.3:p.Pro4278=
ENST00000423156.2:c.2186-1558T>A	ENSP00000390925.2:n.2186-1558T>A
ENST00000455470.6:c.2432-1558T>A	ENSP00000406565.2:n.2432-1558T>A
ENST00000382292.7:c.12834T>A	ENSP00000371729.3:p.Pro4278=
ENST00000382298.7:c.12834T>A	ENSP00000371735.3:p.Pro4278=
ENST00000402364.1:c.10584T>A	ENSP00000385844.1:p.Pro3528=
ENST00000423156.1:c.1058-1558T>A	ENSP00000390925.1:n.1058-1558T>A
ENST00000455470.5:c.2130-1558T>A
NM_001278055.1:c.12393T>A	NP_001264984.1:p.Pro4131=
NM_014363.5:c.12834T>A	NP_055178.3:p.Pro4278=
XM_005266338.1:c.12861T>A	XP_005266395.1:p.Pro4287=
XM_011535038.1:c.12885T>A	XP_011533340.1:p.Pro4295=
XM_011535039.1:c.12852T>A	XP_011533341.1:p.Pro4284=
XM_005266338.2:c.12861T>A	XP_005266395.1:p.Pro4287=
XM_011535039.2:c.12852T>A	XP_011533341.1:p.Pro4284=
XM_017020539.1:c.12825T>A	XP_016876028.1:p.Pro4275=
XM_024449337.1:c.12861T>A	XP_024305105.1:p.Pro4287=
NM_014363.6:c.12834T>A MANE Select	NP_055178.3:p.Pro4278=
NM_001278055.2:c.12393T>A	NP_001264984.1:p.Pro4131=