Canonical Allele Identifier: CA387550083

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23929605C>A (hg19) ; chr13:g.23355466C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355466C>A , CM000675.2:g.23355466C>A	GRCh38
NC_000013.10:g.23929605C>A , CM000675.1:g.23929605C>A	GRCh37
NC_000013.9:g.22827605C>A	NCBI36
NG_012342.1:g.83237G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1146G>T	ENSP00000508399.1:p.Glu382Asp
ENST00000682944.1:c.1146G>T	ENSP00000507173.1:p.Glu382Asp
ENST00000683154.1:n.1284G>T
ENST00000683210.1:c.1146G>T	ENSP00000506739.1:p.Glu382Asp
ENST00000683270.1:c.1137G>T	ENSP00000507624.1:p.Glu379Asp
ENST00000683367.1:c.1137G>T	ENSP00000507780.1:p.Glu379Asp
ENST00000683489.1:c.1146G>T	ENSP00000508403.1:p.Glu382Asp
ENST00000683680.1:c.1146G>T	ENSP00000507223.1:p.Glu382Asp
ENST00000684163.1:c.1137G>T	ENSP00000508262.1:p.Glu379Asp
ENST00000684196.1:n.3503G>T
ENST00000684325.1:c.1146G>T	ENSP00000508121.1:p.Glu382Asp
ENST00000684385.1:c.1146G>T	ENSP00000507855.1:p.Glu382Asp
ENST00000684497.1:c.1146G>T	ENSP00000507057.1:p.Glu382Asp
ENST00000382292.9:c.1146G>T MANE Select	ENSP00000371729.3:p.Glu382Asp
ENST00000423156.2:c.1146G>T	ENSP00000390925.2:p.Glu382Asp
ENST00000455470.6:c.1146G>T	ENSP00000406565.2:p.Glu382Asp
ENST00000382292.7:c.1146G>T	ENSP00000371729.3:p.Glu382Asp
ENST00000382298.7:c.1146G>T	ENSP00000371735.3:p.Glu382Asp
ENST00000402364.1:c.-1105G>T	ENSP00000385844.1:n.-1105G>T
ENST00000423156.1:c.18G>T	ENSP00000390925.1:p.Glu6Asp
ENST00000455470.5:c.844G>T
NM_001278055.1:c.705G>T	NP_001264984.1:p.Glu235Asp
NM_014363.5:c.1146G>T	NP_055178.3:p.Glu382Asp
XM_005266338.1:c.1146G>T	XP_005266395.1:p.Glu382Asp
XM_011535038.1:c.1170G>T	XP_011533340.1:p.Glu390Asp
XM_011535039.1:c.1137G>T	XP_011533341.1:p.Glu379Asp
XM_005266338.2:c.1146G>T	XP_005266395.1:p.Glu382Asp
XM_011535039.2:c.1137G>T	XP_011533341.1:p.Glu379Asp
XM_017020539.1:c.1137G>T	XP_016876028.1:p.Glu379Asp
XM_024449337.1:c.1146G>T	XP_024305105.1:p.Glu382Asp
NM_014363.6:c.1146G>T MANE Select	NP_055178.3:p.Glu382Asp
NM_001278055.2:c.705G>T	NP_001264984.1:p.Glu235Asp