Canonical Allele Identifier: CA387508257

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23905807T>G (hg19) ; chr13:g.23331668T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331668T>G , CM000675.2:g.23331668T>G	GRCh38
NC_000013.10:g.23905807T>G , CM000675.1:g.23905807T>G	GRCh37
NC_000013.9:g.22803807T>G	NCBI36
NG_012342.1:g.107035A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-19553A>C	ENSP00000508399.1:n.2186-19553A>C
ENST00000682944.1:c.12235A>C	ENSP00000507173.1:p.Ser4079Arg
ENST00000683210.1:c.2185+22117A>C	ENSP00000506739.1:n.2185+22117A>C
ENST00000683270.1:c.6446-2184A>C	ENSP00000507624.1:n.6446-2184A>C
ENST00000683367.1:c.2177-2184A>C	ENSP00000507780.1:n.2177-2184A>C
ENST00000683489.1:c.2292-1716A>C	ENSP00000508403.1:n.2292-1716A>C
ENST00000683680.1:c.2319-1716A>C	ENSP00000507223.1:n.2319-1716A>C
ENST00000684163.1:c.2204-2184A>C	ENSP00000508262.1:n.2204-2184A>C
ENST00000684196.1:n.4543-2184A>C
ENST00000684325.1:c.2186-9994A>C	ENSP00000508121.1:n.2186-9994A>C
ENST00000684385.1:c.2221-2184A>C	ENSP00000507855.1:n.2221-2184A>C
ENST00000684497.1:c.2186-9024A>C	ENSP00000507057.1:n.2186-9024A>C
ENST00000382292.9:c.12208A>C MANE Select	ENSP00000371729.3:p.Ser4070Arg
ENST00000423156.2:c.2186-2184A>C	ENSP00000390925.2:n.2186-2184A>C
ENST00000455470.6:c.2432-2184A>C	ENSP00000406565.2:n.2432-2184A>C
ENST00000382292.7:c.12208A>C	ENSP00000371729.3:p.Ser4070Arg
ENST00000382298.7:c.12208A>C	ENSP00000371735.3:p.Ser4070Arg
ENST00000402364.1:c.9958A>C	ENSP00000385844.1:p.Ser3320Arg
ENST00000423156.1:c.1058-2184A>C	ENSP00000390925.1:n.1058-2184A>C
ENST00000455470.5:c.2130-2184A>C
NM_001278055.1:c.11767A>C	NP_001264984.1:p.Ser3923Arg
NM_014363.5:c.12208A>C	NP_055178.3:p.Ser4070Arg
XM_005266338.1:c.12235A>C	XP_005266395.1:p.Ser4079Arg
XM_011535038.1:c.12259A>C	XP_011533340.1:p.Ser4087Arg
XM_011535039.1:c.12226A>C	XP_011533341.1:p.Ser4076Arg
XM_005266338.2:c.12235A>C	XP_005266395.1:p.Ser4079Arg
XM_011535039.2:c.12226A>C	XP_011533341.1:p.Ser4076Arg
XM_017020539.1:c.12199A>C	XP_016876028.1:p.Ser4067Arg
XM_024449337.1:c.12235A>C	XP_024305105.1:p.Ser4079Arg
NM_014363.6:c.12208A>C MANE Select	NP_055178.3:p.Ser4070Arg
NM_001278055.2:c.11767A>C	NP_001264984.1:p.Ser3923Arg