Canonical Allele Identifier: CA387548419

Gene: SACS

Linked Data

• ClinVar Variation Id: 647530
• ClinVar RCV Id: RCV000802055
• dbSNP Id: rs1593144887
• MyVariant Identifiers: chr13:g.23929310C>A (hg19) ; chr13:g.23355171C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355171C>A , CM000675.2:g.23355171C>A	GRCh38
NC_000013.10:g.23929310C>A , CM000675.1:g.23929310C>A	GRCh37
NC_000013.9:g.22827310C>A	NCBI36
NG_012342.1:g.83532G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.1441G>T	ENSP00000508399.1:p.Glu481Ter
ENST00000682944.1:c.1441G>T	ENSP00000507173.1:p.Glu481Ter
ENST00000683154.1:n.1579G>T
ENST00000683210.1:c.1441G>T	ENSP00000506739.1:p.Glu481Ter
ENST00000683270.1:c.1432G>T	ENSP00000507624.1:p.Glu478Ter
ENST00000683367.1:c.1432G>T	ENSP00000507780.1:p.Glu478Ter
ENST00000683489.1:c.1441G>T	ENSP00000508403.1:p.Glu481Ter
ENST00000683680.1:c.1441G>T	ENSP00000507223.1:p.Glu481Ter
ENST00000684163.1:c.1432G>T	ENSP00000508262.1:p.Glu478Ter
ENST00000684196.1:n.3798G>T
ENST00000684325.1:c.1441G>T	ENSP00000508121.1:p.Glu481Ter
ENST00000684385.1:c.1441G>T	ENSP00000507855.1:p.Glu481Ter
ENST00000684497.1:c.1441G>T	ENSP00000507057.1:p.Glu481Ter
ENST00000382292.9:c.1441G>T MANE Select	ENSP00000371729.3:p.Glu481Ter
ENST00000423156.2:c.1441G>T	ENSP00000390925.2:p.Glu481Ter
ENST00000455470.6:c.1441G>T	ENSP00000406565.2:p.Glu481Ter
ENST00000382292.7:c.1441G>T	ENSP00000371729.3:p.Glu481Ter
ENST00000382298.7:c.1441G>T	ENSP00000371735.3:p.Glu481Ter
ENST00000402364.1:c.-810G>T	ENSP00000385844.1:n.-810G>T
ENST00000423156.1:c.313G>T	ENSP00000390925.1:p.Glu105Ter
ENST00000455470.5:c.1139G>T
NM_001278055.1:c.1000G>T	NP_001264984.1:p.Glu334Ter
NM_014363.5:c.1441G>T	NP_055178.3:p.Glu481Ter
XM_005266338.1:c.1441G>T	XP_005266395.1:p.Glu481Ter
XM_011535038.1:c.1465G>T	XP_011533340.1:p.Glu489Ter
XM_011535039.1:c.1432G>T	XP_011533341.1:p.Glu478Ter
XM_005266338.2:c.1441G>T	XP_005266395.1:p.Glu481Ter
XM_011535039.2:c.1432G>T	XP_011533341.1:p.Glu478Ter
XM_017020539.1:c.1432G>T	XP_016876028.1:p.Glu478Ter
XM_024449337.1:c.1441G>T	XP_024305105.1:p.Glu481Ter
NM_014363.6:c.1441G>T MANE Select	NP_055178.3:p.Glu481Ter
NM_001278055.2:c.1000G>T	NP_001264984.1:p.Glu334Ter