Canonical Allele Identifier: CA482918664

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23915804A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341665A>C , CM000675.2:g.23341665A>C	GRCh38
NC_000013.10:g.23915804A>C , CM000675.1:g.23915804A>C	GRCh37
NC_000013.9:g.22813804A>C	NCBI36
NG_012342.1:g.97038T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12120T>G	ENSP00000508399.1:n.2185+12120T>G
ENST00000682944.1:c.2238T>G	ENSP00000507173.1:p.Leu746=
ENST00000683210.1:c.2185+12120T>G	ENSP00000506739.1:n.2185+12120T>G
ENST00000683270.1:c.2202T>G	ENSP00000507624.1:p.Leu734=
ENST00000683367.1:c.2176+12120T>G	ENSP00000507780.1:n.2176+12120T>G
ENST00000683489.1:c.2211T>G	ENSP00000508403.1:p.Leu737=
ENST00000683680.1:c.2238T>G	ENSP00000507223.1:p.Leu746=
ENST00000684163.1:c.2203+5146T>G	ENSP00000508262.1:n.2203+5146T>G
ENST00000684196.1:n.4542+12120T>G
ENST00000684325.1:c.2185+12120T>G	ENSP00000508121.1:n.2185+12120T>G
ENST00000684385.1:c.2220+5146T>G	ENSP00000507855.1:n.2220+5146T>G
ENST00000684497.1:c.2185+12120T>G	ENSP00000507057.1:n.2185+12120T>G
ENST00000382292.9:c.2211T>G MANE Select	ENSP00000371729.3:p.Leu737=
ENST00000423156.2:c.2185+12120T>G	ENSP00000390925.2:n.2185+12120T>G
ENST00000455470.6:c.2211T>G	ENSP00000406565.2:p.Leu737=
ENST00000382292.7:c.2211T>G	ENSP00000371729.3:p.Leu737=
ENST00000382298.7:c.2211T>G	ENSP00000371735.3:p.Leu737=
ENST00000402364.1:c.-40T>G	ENSP00000385844.1:n.-40T>G
ENST00000423156.1:c.1057+12120T>G	ENSP00000390925.1:n.1057+12120T>G
ENST00000455470.5:c.1909T>G
NM_001278055.1:c.1770T>G	NP_001264984.1:p.Leu590=
NM_014363.5:c.2211T>G	NP_055178.3:p.Leu737=
XM_005266338.1:c.2238T>G	XP_005266395.1:p.Leu746=
XM_011535038.1:c.2262T>G	XP_011533340.1:p.Leu754=
XM_011535039.1:c.2229T>G	XP_011533341.1:p.Leu743=
XM_005266338.2:c.2238T>G	XP_005266395.1:p.Leu746=
XM_011535039.2:c.2229T>G	XP_011533341.1:p.Leu743=
XM_017020539.1:c.2202T>G	XP_016876028.1:p.Leu734=
XM_024449337.1:c.2238T>G	XP_024305105.1:p.Leu746=
NM_014363.6:c.2211T>G MANE Select	NP_055178.3:p.Leu737=
NM_001278055.2:c.1770T>G	NP_001264984.1:p.Leu590=