Canonical Allele Identifier: CA6911258

Gene: SACS

Linked Data

• ClinVar Variation Id: 1131220
• ClinVar RCV Id: RCV001465046
• dbSNP Id: rs770178890
• ExAC: 13:23912651 G / A
• gnomAD v2: 13-23912651-G-A
• gnomAD v4: 13-23338512-G-A
• MyVariant Identifiers: chr13:g.23912651G>A (hg19) ; chr13:g.23912651_23912654delinsATCA (hg19) ; chr13:g.23338512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338512G>A , CM000675.2:g.23338512G>A	GRCh38
NC_000013.10:g.23912651G>A , CM000675.1:g.23912651G>A	GRCh37
NC_000013.9:g.22810651G>A	NCBI36
NG_012342.1:g.100191C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+15273C>T	ENSP00000508399.1:n.2185+15273C>T
ENST00000682944.1:c.5391C>T	ENSP00000507173.1:p.Asp1797=
ENST00000683210.1:c.2185+15273C>T	ENSP00000506739.1:n.2185+15273C>T
ENST00000683270.1:c.5355C>T	ENSP00000507624.1:p.Asp1785=
ENST00000683367.1:c.2177-9028C>T	ENSP00000507780.1:n.2177-9028C>T
ENST00000683489.1:c.2291+3073C>T	ENSP00000508403.1:n.2291+3073C>T
ENST00000683680.1:c.2318+3073C>T	ENSP00000507223.1:n.2318+3073C>T
ENST00000684163.1:c.2203+8299C>T	ENSP00000508262.1:n.2203+8299C>T
ENST00000684196.1:n.4543-9028C>T
ENST00000684325.1:c.2185+15273C>T	ENSP00000508121.1:n.2185+15273C>T
ENST00000684385.1:c.2220+8299C>T	ENSP00000507855.1:n.2220+8299C>T
ENST00000684497.1:c.2185+15273C>T	ENSP00000507057.1:n.2185+15273C>T
ENST00000382292.9:c.5364C>T MANE Select	ENSP00000371729.3:p.Asp1788=
ENST00000423156.2:c.2186-9028C>T	ENSP00000390925.2:n.2186-9028C>T
ENST00000455470.6:c.2431+2933C>T	ENSP00000406565.2:n.2431+2933C>T
ENST00000382292.7:c.5364C>T	ENSP00000371729.3:p.Asp1788=
ENST00000382298.7:c.5364C>T	ENSP00000371735.3:p.Asp1788=
ENST00000402364.1:c.3114C>T	ENSP00000385844.1:p.Asp1038=
ENST00000423156.1:c.1058-9028C>T	ENSP00000390925.1:n.1058-9028C>T
ENST00000455470.5:c.2129+2933C>T
NM_001278055.1:c.4923C>T	NP_001264984.1:p.Asp1641=
NM_014363.5:c.5364C>T	NP_055178.3:p.Asp1788=
XM_005266338.1:c.5391C>T	XP_005266395.1:p.Asp1797=
XM_011535038.1:c.5415C>T	XP_011533340.1:p.Asp1805=
XM_011535039.1:c.5382C>T	XP_011533341.1:p.Asp1794=
XM_005266338.2:c.5391C>T	XP_005266395.1:p.Asp1797=
XM_011535039.2:c.5382C>T	XP_011533341.1:p.Asp1794=
XM_017020539.1:c.5355C>T	XP_016876028.1:p.Asp1785=
XM_024449337.1:c.5391C>T	XP_024305105.1:p.Asp1797=
NM_014363.6:c.5364C>T MANE Select	NP_055178.3:p.Asp1788=
NM_001278055.2:c.4923C>T	NP_001264984.1:p.Asp1641=