Canonical Allele Identifier: CA387525572

Gene: SACS

Linked Data

• dbSNP Id: rs1279216400
• gnomAD v2: 13-23912533-C-T
• gnomAD v4: 13-23338394-C-T
• MyVariant Identifiers: chr13:g.23912533C>T (hg19) ; chr13:g.23338394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338394C>T , CM000675.2:g.23338394C>T	GRCh38
NC_000013.10:g.23912533C>T , CM000675.1:g.23912533C>T	GRCh37
NC_000013.9:g.22810533C>T	NCBI36
NG_012342.1:g.100309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15391G>A	ENSP00000508399.1:n.2185+15391G>A
ENST00000682944.1:c.5509G>A	ENSP00000507173.1:p.Glu1837Lys
ENST00000683210.1:c.2185+15391G>A	ENSP00000506739.1:n.2185+15391G>A
ENST00000683270.1:c.5473G>A	ENSP00000507624.1:p.Glu1825Lys
ENST00000683367.1:c.2177-8910G>A	ENSP00000507780.1:n.2177-8910G>A
ENST00000683489.1:c.2291+3191G>A	ENSP00000508403.1:n.2291+3191G>A
ENST00000683680.1:c.2318+3191G>A	ENSP00000507223.1:n.2318+3191G>A
ENST00000684163.1:c.2203+8417G>A	ENSP00000508262.1:n.2203+8417G>A
ENST00000684196.1:n.4543-8910G>A
ENST00000684325.1:c.2185+15391G>A	ENSP00000508121.1:n.2185+15391G>A
ENST00000684385.1:c.2220+8417G>A	ENSP00000507855.1:n.2220+8417G>A
ENST00000684497.1:c.2185+15391G>A	ENSP00000507057.1:n.2185+15391G>A
ENST00000382292.9:c.5482G>A MANE Select	ENSP00000371729.3:p.Glu1828Lys
ENST00000423156.2:c.2186-8910G>A	ENSP00000390925.2:n.2186-8910G>A
ENST00000455470.6:c.2431+3051G>A	ENSP00000406565.2:n.2431+3051G>A
ENST00000382292.7:c.5482G>A	ENSP00000371729.3:p.Glu1828Lys
ENST00000382298.7:c.5482G>A	ENSP00000371735.3:p.Glu1828Lys
ENST00000402364.1:c.3232G>A	ENSP00000385844.1:p.Glu1078Lys
ENST00000423156.1:c.1058-8910G>A	ENSP00000390925.1:n.1058-8910G>A
ENST00000455470.5:c.2129+3051G>A
NM_001278055.1:c.5041G>A	NP_001264984.1:p.Glu1681Lys
NM_014363.5:c.5482G>A	NP_055178.3:p.Glu1828Lys
XM_005266338.1:c.5509G>A	XP_005266395.1:p.Glu1837Lys
XM_011535038.1:c.5533G>A	XP_011533340.1:p.Glu1845Lys
XM_011535039.1:c.5500G>A	XP_011533341.1:p.Glu1834Lys
XM_005266338.2:c.5509G>A	XP_005266395.1:p.Glu1837Lys
XM_011535039.2:c.5500G>A	XP_011533341.1:p.Glu1834Lys
XM_017020539.1:c.5473G>A	XP_016876028.1:p.Glu1825Lys
XM_024449337.1:c.5509G>A	XP_024305105.1:p.Glu1837Lys
NM_014363.6:c.5482G>A MANE Select	NP_055178.3:p.Glu1828Lys
NM_001278055.2:c.5041G>A	NP_001264984.1:p.Glu1681Lys