Canonical Allele Identifier: CA483162304

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23912738A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338599A>T , CM000675.2:g.23338599A>T	GRCh38
NC_000013.10:g.23912738A>T , CM000675.1:g.23912738A>T	GRCh37
NC_000013.9:g.22810738A>T	NCBI36
NG_012342.1:g.100104T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15186T>A	ENSP00000508399.1:n.2185+15186T>A
ENST00000682944.1:c.5304T>A	ENSP00000507173.1:p.Ile1768=
ENST00000683210.1:c.2185+15186T>A	ENSP00000506739.1:n.2185+15186T>A
ENST00000683270.1:c.5268T>A	ENSP00000507624.1:p.Ile1756=
ENST00000683367.1:c.2177-9115T>A	ENSP00000507780.1:n.2177-9115T>A
ENST00000683489.1:c.2291+2986T>A	ENSP00000508403.1:n.2291+2986T>A
ENST00000683680.1:c.2318+2986T>A	ENSP00000507223.1:n.2318+2986T>A
ENST00000684163.1:c.2203+8212T>A	ENSP00000508262.1:n.2203+8212T>A
ENST00000684196.1:n.4543-9115T>A
ENST00000684325.1:c.2185+15186T>A	ENSP00000508121.1:n.2185+15186T>A
ENST00000684385.1:c.2220+8212T>A	ENSP00000507855.1:n.2220+8212T>A
ENST00000684497.1:c.2185+15186T>A	ENSP00000507057.1:n.2185+15186T>A
ENST00000382292.9:c.5277T>A MANE Select	ENSP00000371729.3:p.Ile1759=
ENST00000423156.2:c.2186-9115T>A	ENSP00000390925.2:n.2186-9115T>A
ENST00000455470.6:c.2431+2846T>A	ENSP00000406565.2:n.2431+2846T>A
ENST00000382292.7:c.5277T>A	ENSP00000371729.3:p.Ile1759=
ENST00000382298.7:c.5277T>A	ENSP00000371735.3:p.Ile1759=
ENST00000402364.1:c.3027T>A	ENSP00000385844.1:p.Ile1009=
ENST00000423156.1:c.1058-9115T>A	ENSP00000390925.1:n.1058-9115T>A
ENST00000455470.5:c.2129+2846T>A
NM_001278055.1:c.4836T>A	NP_001264984.1:p.Ile1612=
NM_014363.5:c.5277T>A	NP_055178.3:p.Ile1759=
XM_005266338.1:c.5304T>A	XP_005266395.1:p.Ile1768=
XM_011535038.1:c.5328T>A	XP_011533340.1:p.Ile1776=
XM_011535039.1:c.5295T>A	XP_011533341.1:p.Ile1765=
XM_005266338.2:c.5304T>A	XP_005266395.1:p.Ile1768=
XM_011535039.2:c.5295T>A	XP_011533341.1:p.Ile1765=
XM_017020539.1:c.5268T>A	XP_016876028.1:p.Ile1756=
XM_024449337.1:c.5304T>A	XP_024305105.1:p.Ile1768=
NM_014363.6:c.5277T>A MANE Select	NP_055178.3:p.Ile1759=
NM_001278055.2:c.4836T>A	NP_001264984.1:p.Ile1612=