Canonical Allele Identifier: CA6911509

Gene: SACS

Linked Data

• ClinVar Variation Id: 2863994
• ClinVar RCV Id: RCV003752515
• dbSNP Id: rs200831217
• ExAC: 13:23914465 G / T
• gnomAD v2: 13-23914465-G-T
• gnomAD v4: 13-23340326-G-T
• MyVariant Identifiers: chr13:g.23914465G>T (hg19) ; chr13:g.23340326G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340326G>T , CM000675.2:g.23340326G>T	GRCh38
NC_000013.10:g.23914465G>T , CM000675.1:g.23914465G>T	GRCh37
NC_000013.9:g.22812465G>T	NCBI36
NG_012342.1:g.98377C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+13459C>A	ENSP00000508399.1:n.2185+13459C>A
ENST00000682944.1:c.3577C>A	ENSP00000507173.1:p.Pro1193Thr
ENST00000683210.1:c.2185+13459C>A	ENSP00000506739.1:n.2185+13459C>A
ENST00000683270.1:c.3541C>A	ENSP00000507624.1:p.Pro1181Thr
ENST00000683367.1:c.2177-10842C>A	ENSP00000507780.1:n.2177-10842C>A
ENST00000683489.1:c.2291+1259C>A	ENSP00000508403.1:n.2291+1259C>A
ENST00000683680.1:c.2318+1259C>A	ENSP00000507223.1:n.2318+1259C>A
ENST00000684163.1:c.2203+6485C>A	ENSP00000508262.1:n.2203+6485C>A
ENST00000684196.1:n.4543-10842C>A
ENST00000684325.1:c.2185+13459C>A	ENSP00000508121.1:n.2185+13459C>A
ENST00000684385.1:c.2220+6485C>A	ENSP00000507855.1:n.2220+6485C>A
ENST00000684497.1:c.2185+13459C>A	ENSP00000507057.1:n.2185+13459C>A
ENST00000382292.9:c.3550C>A MANE Select	ENSP00000371729.3:p.Pro1184Thr
ENST00000423156.2:c.2186-10842C>A	ENSP00000390925.2:n.2186-10842C>A
ENST00000455470.6:c.2431+1119C>A	ENSP00000406565.2:n.2431+1119C>A
ENST00000382292.7:c.3550C>A	ENSP00000371729.3:p.Pro1184Thr
ENST00000382298.7:c.3550C>A	ENSP00000371735.3:p.Pro1184Thr
ENST00000402364.1:c.1300C>A	ENSP00000385844.1:p.Pro434Thr
ENST00000423156.1:c.1058-10842C>A	ENSP00000390925.1:n.1058-10842C>A
ENST00000455470.5:c.2129+1119C>A
NM_001278055.1:c.3109C>A	NP_001264984.1:p.Pro1037Thr
NM_014363.5:c.3550C>A	NP_055178.3:p.Pro1184Thr
XM_005266338.1:c.3577C>A	XP_005266395.1:p.Pro1193Thr
XM_011535038.1:c.3601C>A	XP_011533340.1:p.Pro1201Thr
XM_011535039.1:c.3568C>A	XP_011533341.1:p.Pro1190Thr
XM_005266338.2:c.3577C>A	XP_005266395.1:p.Pro1193Thr
XM_011535039.2:c.3568C>A	XP_011533341.1:p.Pro1190Thr
XM_017020539.1:c.3541C>A	XP_016876028.1:p.Pro1181Thr
XM_024449337.1:c.3577C>A	XP_024305105.1:p.Pro1193Thr
NM_014363.6:c.3550C>A MANE Select	NP_055178.3:p.Pro1184Thr
NM_001278055.2:c.3109C>A	NP_001264984.1:p.Pro1037Thr