Canonical Allele Identifier: CA387518446

Gene: SACS

Linked Data

• ClinVar Variation Id: 982742
• ClinVar RCV Id: RCV001262393
• dbSNP Id: rs1868573738
• MyVariant Identifiers: chr13:g.23910318T>C (hg19) ; chr13:g.23336179T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336179T>C , CM000675.2:g.23336179T>C	GRCh38
NC_000013.10:g.23910318T>C , CM000675.1:g.23910318T>C	GRCh37
NC_000013.9:g.22808318T>C	NCBI36
NG_012342.1:g.102524A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17606A>G	ENSP00000508399.1:n.2185+17606A>G
ENST00000682944.1:c.7724A>G	ENSP00000507173.1:p.Asp2575Gly
ENST00000683210.1:c.2185+17606A>G	ENSP00000506739.1:n.2185+17606A>G
ENST00000683270.1:c.6445+1243A>G	ENSP00000507624.1:n.6445+1243A>G
ENST00000683367.1:c.2177-6695A>G	ENSP00000507780.1:n.2177-6695A>G
ENST00000683489.1:c.2291+5406A>G	ENSP00000508403.1:n.2291+5406A>G
ENST00000683680.1:c.2318+5406A>G	ENSP00000507223.1:n.2318+5406A>G
ENST00000684163.1:c.2204-6695A>G	ENSP00000508262.1:n.2204-6695A>G
ENST00000684196.1:n.4543-6695A>G
ENST00000684325.1:c.2186-14505A>G	ENSP00000508121.1:n.2186-14505A>G
ENST00000684385.1:c.2221-6695A>G	ENSP00000507855.1:n.2221-6695A>G
ENST00000684497.1:c.2186-13535A>G	ENSP00000507057.1:n.2186-13535A>G
ENST00000382292.9:c.7697A>G MANE Select	ENSP00000371729.3:p.Asp2566Gly
ENST00000423156.2:c.2186-6695A>G	ENSP00000390925.2:n.2186-6695A>G
ENST00000455470.6:c.2431+5266A>G	ENSP00000406565.2:n.2431+5266A>G
ENST00000382292.7:c.7697A>G	ENSP00000371729.3:p.Asp2566Gly
ENST00000382298.7:c.7697A>G	ENSP00000371735.3:p.Asp2566Gly
ENST00000402364.1:c.5447A>G	ENSP00000385844.1:p.Asp1816Gly
ENST00000423156.1:c.1058-6695A>G	ENSP00000390925.1:n.1058-6695A>G
ENST00000455470.5:c.2129+5266A>G
NM_001278055.1:c.7256A>G	NP_001264984.1:p.Asp2419Gly
NM_014363.5:c.7697A>G	NP_055178.3:p.Asp2566Gly
XM_005266338.1:c.7724A>G	XP_005266395.1:p.Asp2575Gly
XM_011535038.1:c.7748A>G	XP_011533340.1:p.Asp2583Gly
XM_011535039.1:c.7715A>G	XP_011533341.1:p.Asp2572Gly
XM_005266338.2:c.7724A>G	XP_005266395.1:p.Asp2575Gly
XM_011535039.2:c.7715A>G	XP_011533341.1:p.Asp2572Gly
XM_017020539.1:c.7688A>G	XP_016876028.1:p.Asp2563Gly
XM_024449337.1:c.7724A>G	XP_024305105.1:p.Asp2575Gly
NM_014363.6:c.7697A>G MANE Select	NP_055178.3:p.Asp2566Gly
NM_001278055.2:c.7256A>G	NP_001264984.1:p.Asp2419Gly