Canonical Allele Identifier: CA387506192

Gene: SACS

Linked Data

• ClinVar Variation Id: 2584739
• ClinVar RCV Id: RCV003336692
• MyVariant Identifiers: chr13:g.23904998G>T (hg19) ; chr13:g.23330859G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330859G>T , CM000675.2:g.23330859G>T	GRCh38
NC_000013.10:g.23904998G>T , CM000675.1:g.23904998G>T	GRCh37
NC_000013.9:g.22802998G>T	NCBI36
NG_012342.1:g.107844C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18744C>A	ENSP00000508399.1:n.2186-18744C>A
ENST00000682944.1:c.13044C>A	ENSP00000507173.1:p.Asp4348Glu
ENST00000683210.1:c.2185+22926C>A	ENSP00000506739.1:n.2185+22926C>A
ENST00000683270.1:c.6446-1375C>A	ENSP00000507624.1:n.6446-1375C>A
ENST00000683367.1:c.2177-1375C>A	ENSP00000507780.1:n.2177-1375C>A
ENST00000683489.1:c.2292-907C>A	ENSP00000508403.1:n.2292-907C>A
ENST00000683680.1:c.2319-907C>A	ENSP00000507223.1:n.2319-907C>A
ENST00000684163.1:c.2204-1375C>A	ENSP00000508262.1:n.2204-1375C>A
ENST00000684196.1:n.4543-1375C>A
ENST00000684325.1:c.2186-9185C>A	ENSP00000508121.1:n.2186-9185C>A
ENST00000684385.1:c.2221-1375C>A	ENSP00000507855.1:n.2221-1375C>A
ENST00000684497.1:c.2186-8215C>A	ENSP00000507057.1:n.2186-8215C>A
ENST00000382292.9:c.13017C>A MANE Select	ENSP00000371729.3:p.Asp4339Glu
ENST00000423156.2:c.2186-1375C>A	ENSP00000390925.2:n.2186-1375C>A
ENST00000455470.6:c.2432-1375C>A	ENSP00000406565.2:n.2432-1375C>A
ENST00000382292.7:c.13017C>A	ENSP00000371729.3:p.Asp4339Glu
ENST00000382298.7:c.13017C>A	ENSP00000371735.3:p.Asp4339Glu
ENST00000402364.1:c.10767C>A	ENSP00000385844.1:p.Asp3589Glu
ENST00000423156.1:c.1058-1375C>A	ENSP00000390925.1:n.1058-1375C>A
ENST00000455470.5:c.2130-1375C>A
NM_001278055.1:c.12576C>A	NP_001264984.1:p.Asp4192Glu
NM_014363.5:c.13017C>A	NP_055178.3:p.Asp4339Glu
XM_005266338.1:c.13044C>A	XP_005266395.1:p.Asp4348Glu
XM_011535038.1:c.13068C>A	XP_011533340.1:p.Asp4356Glu
XM_011535039.1:c.13035C>A	XP_011533341.1:p.Asp4345Glu
XM_005266338.2:c.13044C>A	XP_005266395.1:p.Asp4348Glu
XM_011535039.2:c.13035C>A	XP_011533341.1:p.Asp4345Glu
XM_017020539.1:c.13008C>A	XP_016876028.1:p.Asp4336Glu
XM_024449337.1:c.13044C>A	XP_024305105.1:p.Asp4348Glu
NM_014363.6:c.13017C>A MANE Select	NP_055178.3:p.Asp4339Glu
NM_001278055.2:c.12576C>A	NP_001264984.1:p.Asp4192Glu