Canonical Allele Identifier: CA6911814

Gene: SACS

Linked Data

• dbSNP Id: rs750191264
• ExAC: 13:23928751 T / C
• gnomAD v2: 13-23928751-T-C
• gnomAD v4: 13-23354612-T-C
• MyVariant Identifiers: chr13:g.23928751T>C (hg19) ; chr13:g.23354612T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354612T>C , CM000675.2:g.23354612T>C	GRCh38
NC_000013.10:g.23928751T>C , CM000675.1:g.23928751T>C	GRCh37
NC_000013.9:g.22826751T>C	NCBI36
NG_012342.1:g.84091A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2000A>G	ENSP00000508399.1:p.Glu667Gly
ENST00000682944.1:c.2000A>G	ENSP00000507173.1:p.Glu667Gly
ENST00000683154.1:n.2138A>G
ENST00000683210.1:c.2000A>G	ENSP00000506739.1:p.Glu667Gly
ENST00000683270.1:c.1991A>G	ENSP00000507624.1:p.Glu664Gly
ENST00000683367.1:c.1991A>G	ENSP00000507780.1:p.Glu664Gly
ENST00000683489.1:c.2000A>G	ENSP00000508403.1:p.Glu667Gly
ENST00000683680.1:c.2000A>G	ENSP00000507223.1:p.Glu667Gly
ENST00000684163.1:c.1991A>G	ENSP00000508262.1:p.Glu664Gly
ENST00000684196.1:n.4357A>G
ENST00000684325.1:c.2000A>G	ENSP00000508121.1:p.Glu667Gly
ENST00000684385.1:c.2000A>G	ENSP00000507855.1:p.Glu667Gly
ENST00000684497.1:c.2000A>G	ENSP00000507057.1:p.Glu667Gly
ENST00000382292.9:c.2000A>G MANE Select	ENSP00000371729.3:p.Glu667Gly
ENST00000423156.2:c.2000A>G	ENSP00000390925.2:p.Glu667Gly
ENST00000455470.6:c.2000A>G	ENSP00000406565.2:p.Glu667Gly
ENST00000382292.7:c.2000A>G	ENSP00000371729.3:p.Glu667Gly
ENST00000382298.7:c.2000A>G	ENSP00000371735.3:p.Glu667Gly
ENST00000402364.1:c.-251A>G	ENSP00000385844.1:n.-251A>G
ENST00000423156.1:c.872A>G	ENSP00000390925.1:p.Glu291Gly
ENST00000455470.5:c.1698A>G
ENST00000476776.1:n.279A>G
NM_001278055.1:c.1559A>G	NP_001264984.1:p.Glu520Gly
NM_014363.5:c.2000A>G	NP_055178.3:p.Glu667Gly
XM_005266338.1:c.2000A>G	XP_005266395.1:p.Glu667Gly
XM_011535038.1:c.2024A>G	XP_011533340.1:p.Glu675Gly
XM_011535039.1:c.1991A>G	XP_011533341.1:p.Glu664Gly
XM_005266338.2:c.2000A>G	XP_005266395.1:p.Glu667Gly
XM_011535039.2:c.1991A>G	XP_011533341.1:p.Glu664Gly
XM_017020539.1:c.1991A>G	XP_016876028.1:p.Glu664Gly
XM_024449337.1:c.2000A>G	XP_024305105.1:p.Glu667Gly
NM_014363.6:c.2000A>G MANE Select	NP_055178.3:p.Glu667Gly
NM_001278055.2:c.1559A>G	NP_001264984.1:p.Glu520Gly