Canonical Allele Identifier: CA483164136

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23915717T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341578T>A , CM000675.2:g.23341578T>A	GRCh38
NC_000013.10:g.23915717T>A , CM000675.1:g.23915717T>A	GRCh37
NC_000013.9:g.22813717T>A	NCBI36
NG_012342.1:g.97125A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+12207A>T	ENSP00000508399.1:n.2185+12207A>T
ENST00000682944.1:c.2325A>T	ENSP00000507173.1:p.Pro775=
ENST00000683210.1:c.2185+12207A>T	ENSP00000506739.1:n.2185+12207A>T
ENST00000683270.1:c.2289A>T	ENSP00000507624.1:p.Pro763=
ENST00000683367.1:c.2177-12094A>T	ENSP00000507780.1:n.2177-12094A>T
ENST00000683489.1:c.2291+7A>T	ENSP00000508403.1:n.2291+7A>T
ENST00000683680.1:c.2318+7A>T	ENSP00000507223.1:n.2318+7A>T
ENST00000684163.1:c.2203+5233A>T	ENSP00000508262.1:n.2203+5233A>T
ENST00000684196.1:n.4543-12094A>T
ENST00000684325.1:c.2185+12207A>T	ENSP00000508121.1:n.2185+12207A>T
ENST00000684385.1:c.2220+5233A>T	ENSP00000507855.1:n.2220+5233A>T
ENST00000684497.1:c.2185+12207A>T	ENSP00000507057.1:n.2185+12207A>T
ENST00000382292.9:c.2298A>T MANE Select	ENSP00000371729.3:p.Pro766=
ENST00000423156.2:c.2186-12094A>T	ENSP00000390925.2:n.2186-12094A>T
ENST00000455470.6:c.2298A>T	ENSP00000406565.2:p.Pro766=
ENST00000382292.7:c.2298A>T	ENSP00000371729.3:p.Pro766=
ENST00000382298.7:c.2298A>T	ENSP00000371735.3:p.Pro766=
ENST00000402364.1:c.48A>T	ENSP00000385844.1:p.Pro16=
ENST00000423156.1:c.1058-12094A>T	ENSP00000390925.1:n.1058-12094A>T
ENST00000455470.5:c.1996A>T
NM_001278055.1:c.1857A>T	NP_001264984.1:p.Pro619=
NM_014363.5:c.2298A>T	NP_055178.3:p.Pro766=
XM_005266338.1:c.2325A>T	XP_005266395.1:p.Pro775=
XM_011535038.1:c.2349A>T	XP_011533340.1:p.Pro783=
XM_011535039.1:c.2316A>T	XP_011533341.1:p.Pro772=
XM_005266338.2:c.2325A>T	XP_005266395.1:p.Pro775=
XM_011535039.2:c.2316A>T	XP_011533341.1:p.Pro772=
XM_017020539.1:c.2289A>T	XP_016876028.1:p.Pro763=
XM_024449337.1:c.2325A>T	XP_024305105.1:p.Pro775=
NM_014363.6:c.2298A>T MANE Select	NP_055178.3:p.Pro766=
NM_001278055.2:c.1857A>T	NP_001264984.1:p.Pro619=