Canonical Allele Identifier: CA387552053

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23932557T>G (hg19) ; chr13:g.23358418T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358418T>G , CM000675.2:g.23358418T>G	GRCh38
NC_000013.10:g.23932557T>G , CM000675.1:g.23932557T>G	GRCh37
NC_000013.9:g.22830557T>G	NCBI36
NG_012342.1:g.80285A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.521A>C	ENSP00000508399.1:p.Glu174Ala
ENST00000682944.1:c.521A>C	ENSP00000507173.1:p.Glu174Ala
ENST00000683154.1:n.659A>C
ENST00000683210.1:c.521A>C	ENSP00000506739.1:p.Glu174Ala
ENST00000683270.1:c.512A>C	ENSP00000507624.1:p.Glu171Ala
ENST00000683367.1:c.512A>C	ENSP00000507780.1:p.Glu171Ala
ENST00000683489.1:c.521A>C	ENSP00000508403.1:p.Glu174Ala
ENST00000683680.1:c.521A>C	ENSP00000507223.1:p.Glu174Ala
ENST00000684163.1:c.512A>C	ENSP00000508262.1:p.Glu171Ala
ENST00000684196.1:n.2878A>C
ENST00000684325.1:c.521A>C	ENSP00000508121.1:p.Glu174Ala
ENST00000684385.1:c.521A>C	ENSP00000507855.1:p.Glu174Ala
ENST00000684497.1:c.521A>C	ENSP00000507057.1:p.Glu174Ala
ENST00000382292.9:c.521A>C MANE Select	ENSP00000371729.3:p.Glu174Ala
ENST00000423156.2:c.521A>C	ENSP00000390925.2:p.Glu174Ala
ENST00000455470.6:c.521A>C	ENSP00000406565.2:p.Glu174Ala
ENST00000382292.7:c.521A>C	ENSP00000371729.3:p.Glu174Ala
ENST00000382298.7:c.521A>C	ENSP00000371735.3:p.Glu174Ala
ENST00000402364.1:c.-1730A>C	ENSP00000385844.1:n.-1730A>C
ENST00000455470.5:c.219A>C
NM_001278055.1:c.80A>C	NP_001264984.1:p.Glu27Ala
NM_014363.5:c.521A>C	NP_055178.3:p.Glu174Ala
XM_005266338.1:c.521A>C	XP_005266395.1:p.Glu174Ala
XM_011535038.1:c.545A>C	XP_011533340.1:p.Glu182Ala
XM_011535039.1:c.512A>C	XP_011533341.1:p.Glu171Ala
XM_005266338.2:c.521A>C	XP_005266395.1:p.Glu174Ala
XM_011535039.2:c.512A>C	XP_011533341.1:p.Glu171Ala
XM_017020539.1:c.512A>C	XP_016876028.1:p.Glu171Ala
XM_024449337.1:c.521A>C	XP_024305105.1:p.Glu174Ala
NM_014363.6:c.521A>C MANE Select	NP_055178.3:p.Glu174Ala
NM_001278055.2:c.80A>C	NP_001264984.1:p.Glu27Ala