Canonical Allele Identifier: CA387520162

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23910966T>G (hg19) ; chr13:g.23336827T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336827T>G , CM000675.2:g.23336827T>G	GRCh38
NC_000013.10:g.23910966T>G , CM000675.1:g.23910966T>G	GRCh37
NC_000013.9:g.22808966T>G	NCBI36
NG_012342.1:g.101876A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16958A>C	ENSP00000508399.1:n.2185+16958A>C
ENST00000682944.1:c.7076A>C	ENSP00000507173.1:p.Glu2359Ala
ENST00000683210.1:c.2185+16958A>C	ENSP00000506739.1:n.2185+16958A>C
ENST00000683270.1:c.6445+595A>C	ENSP00000507624.1:n.6445+595A>C
ENST00000683367.1:c.2177-7343A>C	ENSP00000507780.1:n.2177-7343A>C
ENST00000683489.1:c.2291+4758A>C	ENSP00000508403.1:n.2291+4758A>C
ENST00000683680.1:c.2318+4758A>C	ENSP00000507223.1:n.2318+4758A>C
ENST00000684163.1:c.2204-7343A>C	ENSP00000508262.1:n.2204-7343A>C
ENST00000684196.1:n.4543-7343A>C
ENST00000684325.1:c.2186-15153A>C	ENSP00000508121.1:n.2186-15153A>C
ENST00000684385.1:c.2221-7343A>C	ENSP00000507855.1:n.2221-7343A>C
ENST00000684497.1:c.2186-14183A>C	ENSP00000507057.1:n.2186-14183A>C
ENST00000382292.9:c.7049A>C MANE Select	ENSP00000371729.3:p.Glu2350Ala
ENST00000423156.2:c.2186-7343A>C	ENSP00000390925.2:n.2186-7343A>C
ENST00000455470.6:c.2431+4618A>C	ENSP00000406565.2:n.2431+4618A>C
ENST00000382292.7:c.7049A>C	ENSP00000371729.3:p.Glu2350Ala
ENST00000382298.7:c.7049A>C	ENSP00000371735.3:p.Glu2350Ala
ENST00000402364.1:c.4799A>C	ENSP00000385844.1:p.Glu1600Ala
ENST00000423156.1:c.1058-7343A>C	ENSP00000390925.1:n.1058-7343A>C
ENST00000455470.5:c.2129+4618A>C
NM_001278055.1:c.6608A>C	NP_001264984.1:p.Glu2203Ala
NM_014363.5:c.7049A>C	NP_055178.3:p.Glu2350Ala
XM_005266338.1:c.7076A>C	XP_005266395.1:p.Glu2359Ala
XM_011535038.1:c.7100A>C	XP_011533340.1:p.Glu2367Ala
XM_011535039.1:c.7067A>C	XP_011533341.1:p.Glu2356Ala
XM_005266338.2:c.7076A>C	XP_005266395.1:p.Glu2359Ala
XM_011535039.2:c.7067A>C	XP_011533341.1:p.Glu2356Ala
XM_017020539.1:c.7040A>C	XP_016876028.1:p.Glu2347Ala
XM_024449337.1:c.7076A>C	XP_024305105.1:p.Glu2359Ala
NM_014363.6:c.7049A>C MANE Select	NP_055178.3:p.Glu2350Ala
NM_001278055.2:c.6608A>C	NP_001264984.1:p.Glu2203Ala