Canonical Allele Identifier: CA483163649

Gene: SACS

Linked Data

• dbSNP Id: rs1365633383
• gnomAD v2: 13-23915105-A-G
• gnomAD v4: 13-23340966-A-G
• MyVariant Identifiers: chr13:g.23915105A>G (hg19) ; chr13:g.23340966A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340966A>G , CM000675.2:g.23340966A>G	GRCh38
NC_000013.10:g.23915105A>G , CM000675.1:g.23915105A>G	GRCh37
NC_000013.9:g.22813105A>G	NCBI36
NG_012342.1:g.97737T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+12819T>C	ENSP00000508399.1:n.2185+12819T>C
ENST00000682944.1:c.2937T>C	ENSP00000507173.1:p.Ser979=
ENST00000683210.1:c.2185+12819T>C	ENSP00000506739.1:n.2185+12819T>C
ENST00000683270.1:c.2901T>C	ENSP00000507624.1:p.Ser967=
ENST00000683367.1:c.2177-11482T>C	ENSP00000507780.1:n.2177-11482T>C
ENST00000683489.1:c.2291+619T>C	ENSP00000508403.1:n.2291+619T>C
ENST00000683680.1:c.2318+619T>C	ENSP00000507223.1:n.2318+619T>C
ENST00000684163.1:c.2203+5845T>C	ENSP00000508262.1:n.2203+5845T>C
ENST00000684196.1:n.4543-11482T>C
ENST00000684325.1:c.2185+12819T>C	ENSP00000508121.1:n.2185+12819T>C
ENST00000684385.1:c.2220+5845T>C	ENSP00000507855.1:n.2220+5845T>C
ENST00000684497.1:c.2185+12819T>C	ENSP00000507057.1:n.2185+12819T>C
ENST00000382292.9:c.2910T>C MANE Select	ENSP00000371729.3:p.Ser970=
ENST00000423156.2:c.2186-11482T>C	ENSP00000390925.2:n.2186-11482T>C
ENST00000455470.6:c.2431+479T>C	ENSP00000406565.2:n.2431+479T>C
ENST00000382292.7:c.2910T>C	ENSP00000371729.3:p.Ser970=
ENST00000382298.7:c.2910T>C	ENSP00000371735.3:p.Ser970=
ENST00000402364.1:c.660T>C	ENSP00000385844.1:p.Ser220=
ENST00000423156.1:c.1058-11482T>C	ENSP00000390925.1:n.1058-11482T>C
ENST00000455470.5:c.2129+479T>C
NM_001278055.1:c.2469T>C	NP_001264984.1:p.Ser823=
NM_014363.5:c.2910T>C	NP_055178.3:p.Ser970=
XM_005266338.1:c.2937T>C	XP_005266395.1:p.Ser979=
XM_011535038.1:c.2961T>C	XP_011533340.1:p.Ser987=
XM_011535039.1:c.2928T>C	XP_011533341.1:p.Ser976=
XM_005266338.2:c.2937T>C	XP_005266395.1:p.Ser979=
XM_011535039.2:c.2928T>C	XP_011533341.1:p.Ser976=
XM_017020539.1:c.2901T>C	XP_016876028.1:p.Ser967=
XM_024449337.1:c.2937T>C	XP_024305105.1:p.Ser979=
NM_014363.6:c.2910T>C MANE Select	NP_055178.3:p.Ser970=
NM_001278055.2:c.2469T>C	NP_001264984.1:p.Ser823=