Canonical Allele Identifier: CA387536275

Gene: SACS

Linked Data

• ClinVar Variation Id: 2159611
• ClinVar RCV Id: RCV003087420
• dbSNP Id: rs1160523447
• gnomAD v2: 13-23914767-A-G
• gnomAD v4: 13-23340628-A-G
• MyVariant Identifiers: chr13:g.23914767A>G (hg19) ; chr13:g.23340628A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340628A>G , CM000675.2:g.23340628A>G	GRCh38
NC_000013.10:g.23914767A>G , CM000675.1:g.23914767A>G	GRCh37
NC_000013.9:g.22812767A>G	NCBI36
NG_012342.1:g.98075T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+13157T>C	ENSP00000508399.1:n.2185+13157T>C
ENST00000682944.1:c.3275T>C	ENSP00000507173.1:p.Ile1092Thr
ENST00000683210.1:c.2185+13157T>C	ENSP00000506739.1:n.2185+13157T>C
ENST00000683270.1:c.3239T>C	ENSP00000507624.1:p.Ile1080Thr
ENST00000683367.1:c.2177-11144T>C	ENSP00000507780.1:n.2177-11144T>C
ENST00000683489.1:c.2291+957T>C	ENSP00000508403.1:n.2291+957T>C
ENST00000683680.1:c.2318+957T>C	ENSP00000507223.1:n.2318+957T>C
ENST00000684163.1:c.2203+6183T>C	ENSP00000508262.1:n.2203+6183T>C
ENST00000684196.1:n.4543-11144T>C
ENST00000684325.1:c.2185+13157T>C	ENSP00000508121.1:n.2185+13157T>C
ENST00000684385.1:c.2220+6183T>C	ENSP00000507855.1:n.2220+6183T>C
ENST00000684497.1:c.2185+13157T>C	ENSP00000507057.1:n.2185+13157T>C
ENST00000382292.9:c.3248T>C MANE Select	ENSP00000371729.3:p.Ile1083Thr
ENST00000423156.2:c.2186-11144T>C	ENSP00000390925.2:n.2186-11144T>C
ENST00000455470.6:c.2431+817T>C	ENSP00000406565.2:n.2431+817T>C
ENST00000382292.7:c.3248T>C	ENSP00000371729.3:p.Ile1083Thr
ENST00000382298.7:c.3248T>C	ENSP00000371735.3:p.Ile1083Thr
ENST00000402364.1:c.998T>C	ENSP00000385844.1:p.Ile333Thr
ENST00000423156.1:c.1058-11144T>C	ENSP00000390925.1:n.1058-11144T>C
ENST00000455470.5:c.2129+817T>C
NM_001278055.1:c.2807T>C	NP_001264984.1:p.Ile936Thr
NM_014363.5:c.3248T>C	NP_055178.3:p.Ile1083Thr
XM_005266338.1:c.3275T>C	XP_005266395.1:p.Ile1092Thr
XM_011535038.1:c.3299T>C	XP_011533340.1:p.Ile1100Thr
XM_011535039.1:c.3266T>C	XP_011533341.1:p.Ile1089Thr
XM_005266338.2:c.3275T>C	XP_005266395.1:p.Ile1092Thr
XM_011535039.2:c.3266T>C	XP_011533341.1:p.Ile1089Thr
XM_017020539.1:c.3239T>C	XP_016876028.1:p.Ile1080Thr
XM_024449337.1:c.3275T>C	XP_024305105.1:p.Ile1092Thr
NM_014363.6:c.3248T>C MANE Select	NP_055178.3:p.Ile1083Thr
NM_001278055.2:c.2807T>C	NP_001264984.1:p.Ile936Thr