Canonical Allele Identifier: CA387518764

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23910452T>G (hg19) ; chr13:g.23336313T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336313T>G , CM000675.2:g.23336313T>G	GRCh38
NC_000013.10:g.23910452T>G , CM000675.1:g.23910452T>G	GRCh37
NC_000013.9:g.22808452T>G	NCBI36
NG_012342.1:g.102390A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17472A>C	ENSP00000508399.1:n.2185+17472A>C
ENST00000682944.1:c.7590A>C	ENSP00000507173.1:p.Glu2530Asp
ENST00000683210.1:c.2185+17472A>C	ENSP00000506739.1:n.2185+17472A>C
ENST00000683270.1:c.6445+1109A>C	ENSP00000507624.1:n.6445+1109A>C
ENST00000683367.1:c.2177-6829A>C	ENSP00000507780.1:n.2177-6829A>C
ENST00000683489.1:c.2291+5272A>C	ENSP00000508403.1:n.2291+5272A>C
ENST00000683680.1:c.2318+5272A>C	ENSP00000507223.1:n.2318+5272A>C
ENST00000684163.1:c.2204-6829A>C	ENSP00000508262.1:n.2204-6829A>C
ENST00000684196.1:n.4543-6829A>C
ENST00000684325.1:c.2186-14639A>C	ENSP00000508121.1:n.2186-14639A>C
ENST00000684385.1:c.2221-6829A>C	ENSP00000507855.1:n.2221-6829A>C
ENST00000684497.1:c.2186-13669A>C	ENSP00000507057.1:n.2186-13669A>C
ENST00000382292.9:c.7563A>C MANE Select	ENSP00000371729.3:p.Glu2521Asp
ENST00000423156.2:c.2186-6829A>C	ENSP00000390925.2:n.2186-6829A>C
ENST00000455470.6:c.2431+5132A>C	ENSP00000406565.2:n.2431+5132A>C
ENST00000382292.7:c.7563A>C	ENSP00000371729.3:p.Glu2521Asp
ENST00000382298.7:c.7563A>C	ENSP00000371735.3:p.Glu2521Asp
ENST00000402364.1:c.5313A>C	ENSP00000385844.1:p.Glu1771Asp
ENST00000423156.1:c.1058-6829A>C	ENSP00000390925.1:n.1058-6829A>C
ENST00000455470.5:c.2129+5132A>C
NM_001278055.1:c.7122A>C	NP_001264984.1:p.Glu2374Asp
NM_014363.5:c.7563A>C	NP_055178.3:p.Glu2521Asp
XM_005266338.1:c.7590A>C	XP_005266395.1:p.Glu2530Asp
XM_011535038.1:c.7614A>C	XP_011533340.1:p.Glu2538Asp
XM_011535039.1:c.7581A>C	XP_011533341.1:p.Glu2527Asp
XM_005266338.2:c.7590A>C	XP_005266395.1:p.Glu2530Asp
XM_011535039.2:c.7581A>C	XP_011533341.1:p.Glu2527Asp
XM_017020539.1:c.7554A>C	XP_016876028.1:p.Glu2518Asp
XM_024449337.1:c.7590A>C	XP_024305105.1:p.Glu2530Asp
NM_014363.6:c.7563A>C MANE Select	NP_055178.3:p.Glu2521Asp
NM_001278055.2:c.7122A>C	NP_001264984.1:p.Glu2374Asp