Canonical Allele Identifier: CA483158395

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23905499T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331360T>G , CM000675.2:g.23331360T>G	GRCh38
NC_000013.10:g.23905499T>G , CM000675.1:g.23905499T>G	GRCh37
NC_000013.9:g.22803499T>G	NCBI36
NG_012342.1:g.107343A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19245A>C	ENSP00000508399.1:n.2186-19245A>C
ENST00000682944.1:c.12543A>C	ENSP00000507173.1:p.Pro4181=
ENST00000683210.1:c.2185+22425A>C	ENSP00000506739.1:n.2185+22425A>C
ENST00000683270.1:c.6446-1876A>C	ENSP00000507624.1:n.6446-1876A>C
ENST00000683367.1:c.2177-1876A>C	ENSP00000507780.1:n.2177-1876A>C
ENST00000683489.1:c.2292-1408A>C	ENSP00000508403.1:n.2292-1408A>C
ENST00000683680.1:c.2319-1408A>C	ENSP00000507223.1:n.2319-1408A>C
ENST00000684163.1:c.2204-1876A>C	ENSP00000508262.1:n.2204-1876A>C
ENST00000684196.1:n.4543-1876A>C
ENST00000684325.1:c.2186-9686A>C	ENSP00000508121.1:n.2186-9686A>C
ENST00000684385.1:c.2221-1876A>C	ENSP00000507855.1:n.2221-1876A>C
ENST00000684497.1:c.2186-8716A>C	ENSP00000507057.1:n.2186-8716A>C
ENST00000382292.9:c.12516A>C MANE Select	ENSP00000371729.3:p.Pro4172=
ENST00000423156.2:c.2186-1876A>C	ENSP00000390925.2:n.2186-1876A>C
ENST00000455470.6:c.2432-1876A>C	ENSP00000406565.2:n.2432-1876A>C
ENST00000382292.7:c.12516A>C	ENSP00000371729.3:p.Pro4172=
ENST00000382298.7:c.12516A>C	ENSP00000371735.3:p.Pro4172=
ENST00000402364.1:c.10266A>C	ENSP00000385844.1:p.Pro3422=
ENST00000423156.1:c.1058-1876A>C	ENSP00000390925.1:n.1058-1876A>C
ENST00000455470.5:c.2130-1876A>C
NM_001278055.1:c.12075A>C	NP_001264984.1:p.Pro4025=
NM_014363.5:c.12516A>C	NP_055178.3:p.Pro4172=
XM_005266338.1:c.12543A>C	XP_005266395.1:p.Pro4181=
XM_011535038.1:c.12567A>C	XP_011533340.1:p.Pro4189=
XM_011535039.1:c.12534A>C	XP_011533341.1:p.Pro4178=
XM_005266338.2:c.12543A>C	XP_005266395.1:p.Pro4181=
XM_011535039.2:c.12534A>C	XP_011533341.1:p.Pro4178=
XM_017020539.1:c.12507A>C	XP_016876028.1:p.Pro4169=
XM_024449337.1:c.12543A>C	XP_024305105.1:p.Pro4181=
NM_014363.6:c.12516A>C MANE Select	NP_055178.3:p.Pro4172=
NM_001278055.2:c.12075A>C	NP_001264984.1:p.Pro4025=