Canonical Allele Identifier: CA387539746

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23915750C>T (hg19) ; chr13:g.23341611C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341611C>T , CM000675.2:g.23341611C>T	GRCh38
NC_000013.10:g.23915750C>T , CM000675.1:g.23915750C>T	GRCh37
NC_000013.9:g.22813750C>T	NCBI36
NG_012342.1:g.97092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12174G>A	ENSP00000508399.1:n.2185+12174G>A
ENST00000682944.1:c.2292G>A	ENSP00000507173.1:p.Trp764Ter
ENST00000683210.1:c.2185+12174G>A	ENSP00000506739.1:n.2185+12174G>A
ENST00000683270.1:c.2256G>A	ENSP00000507624.1:p.Trp752Ter
ENST00000683367.1:c.2177-12127G>A	ENSP00000507780.1:n.2177-12127G>A
ENST00000683489.1:c.2265G>A	ENSP00000508403.1:p.Trp755Ter
ENST00000683680.1:c.2292G>A	ENSP00000507223.1:p.Trp764Ter
ENST00000684163.1:c.2203+5200G>A	ENSP00000508262.1:n.2203+5200G>A
ENST00000684196.1:n.4543-12127G>A
ENST00000684325.1:c.2185+12174G>A	ENSP00000508121.1:n.2185+12174G>A
ENST00000684385.1:c.2220+5200G>A	ENSP00000507855.1:n.2220+5200G>A
ENST00000684497.1:c.2185+12174G>A	ENSP00000507057.1:n.2185+12174G>A
ENST00000382292.9:c.2265G>A MANE Select	ENSP00000371729.3:p.Trp755Ter
ENST00000423156.2:c.2186-12127G>A	ENSP00000390925.2:n.2186-12127G>A
ENST00000455470.6:c.2265G>A	ENSP00000406565.2:p.Trp755Ter
ENST00000382292.7:c.2265G>A	ENSP00000371729.3:p.Trp755Ter
ENST00000382298.7:c.2265G>A	ENSP00000371735.3:p.Trp755Ter
ENST00000402364.1:c.15G>A	ENSP00000385844.1:p.Trp5Ter
ENST00000423156.1:c.1058-12127G>A	ENSP00000390925.1:n.1058-12127G>A
ENST00000455470.5:c.1963G>A
NM_001278055.1:c.1824G>A	NP_001264984.1:p.Trp608Ter
NM_014363.5:c.2265G>A	NP_055178.3:p.Trp755Ter
XM_005266338.1:c.2292G>A	XP_005266395.1:p.Trp764Ter
XM_011535038.1:c.2316G>A	XP_011533340.1:p.Trp772Ter
XM_011535039.1:c.2283G>A	XP_011533341.1:p.Trp761Ter
XM_005266338.2:c.2292G>A	XP_005266395.1:p.Trp764Ter
XM_011535039.2:c.2283G>A	XP_011533341.1:p.Trp761Ter
XM_017020539.1:c.2256G>A	XP_016876028.1:p.Trp752Ter
XM_024449337.1:c.2292G>A	XP_024305105.1:p.Trp764Ter
NM_014363.6:c.2265G>A MANE Select	NP_055178.3:p.Trp755Ter
NM_001278055.2:c.1824G>A	NP_001264984.1:p.Trp608Ter