Canonical Allele Identifier: CA387507183

Gene: SACS

Linked Data

• dbSNP Id: rs376837191
• gnomAD v4: 13-23331199-T-C
• MyVariant Identifiers: chr13:g.23905338T>C (hg19) ; chr13:g.23331199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331199T>C , CM000675.2:g.23331199T>C	GRCh38
NC_000013.10:g.23905338T>C , CM000675.1:g.23905338T>C	GRCh37
NC_000013.9:g.22803338T>C	NCBI36
NG_012342.1:g.107504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19084A>G	ENSP00000508399.1:n.2186-19084A>G
ENST00000682944.1:c.12704A>G	ENSP00000507173.1:p.Gln4235Arg
ENST00000683210.1:c.2185+22586A>G	ENSP00000506739.1:n.2185+22586A>G
ENST00000683270.1:c.6446-1715A>G	ENSP00000507624.1:n.6446-1715A>G
ENST00000683367.1:c.2177-1715A>G	ENSP00000507780.1:n.2177-1715A>G
ENST00000683489.1:c.2292-1247A>G	ENSP00000508403.1:n.2292-1247A>G
ENST00000683680.1:c.2319-1247A>G	ENSP00000507223.1:n.2319-1247A>G
ENST00000684163.1:c.2204-1715A>G	ENSP00000508262.1:n.2204-1715A>G
ENST00000684196.1:n.4543-1715A>G
ENST00000684325.1:c.2186-9525A>G	ENSP00000508121.1:n.2186-9525A>G
ENST00000684385.1:c.2221-1715A>G	ENSP00000507855.1:n.2221-1715A>G
ENST00000684497.1:c.2186-8555A>G	ENSP00000507057.1:n.2186-8555A>G
ENST00000382292.9:c.12677A>G MANE Select	ENSP00000371729.3:p.Gln4226Arg
ENST00000423156.2:c.2186-1715A>G	ENSP00000390925.2:n.2186-1715A>G
ENST00000455470.6:c.2432-1715A>G	ENSP00000406565.2:n.2432-1715A>G
ENST00000382292.7:c.12677A>G	ENSP00000371729.3:p.Gln4226Arg
ENST00000382298.7:c.12677A>G	ENSP00000371735.3:p.Gln4226Arg
ENST00000402364.1:c.10427A>G	ENSP00000385844.1:p.Gln3476Arg
ENST00000423156.1:c.1058-1715A>G	ENSP00000390925.1:n.1058-1715A>G
ENST00000455470.5:c.2130-1715A>G
NM_001278055.1:c.12236A>G	NP_001264984.1:p.Gln4079Arg
NM_014363.5:c.12677A>G	NP_055178.3:p.Gln4226Arg
XM_005266338.1:c.12704A>G	XP_005266395.1:p.Gln4235Arg
XM_011535038.1:c.12728A>G	XP_011533340.1:p.Gln4243Arg
XM_011535039.1:c.12695A>G	XP_011533341.1:p.Gln4232Arg
XM_005266338.2:c.12704A>G	XP_005266395.1:p.Gln4235Arg
XM_011535039.2:c.12695A>G	XP_011533341.1:p.Gln4232Arg
XM_017020539.1:c.12668A>G	XP_016876028.1:p.Gln4223Arg
XM_024449337.1:c.12704A>G	XP_024305105.1:p.Gln4235Arg
NM_014363.6:c.12677A>G MANE Select	NP_055178.3:p.Gln4226Arg
NM_001278055.2:c.12236A>G	NP_001264984.1:p.Gln4079Arg