Canonical Allele Identifier: CA387534485

Gene: SACS

Linked Data

• dbSNP Id: rs1869079510
• gnomAD v4: 13-23340292-A-G
• COSMIC: COSM401411
• MyVariant Identifiers: chr13:g.23914431A>G (hg19) ; chr13:g.23340292A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340292A>G , CM000675.2:g.23340292A>G	GRCh38
NC_000013.10:g.23914431A>G , CM000675.1:g.23914431A>G	GRCh37
NC_000013.9:g.22812431A>G	NCBI36
NG_012342.1:g.98411T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13493T>C	ENSP00000508399.1:n.2185+13493T>C
ENST00000682944.1:c.3611T>C	ENSP00000507173.1:p.Ile1204Thr
ENST00000683210.1:c.2185+13493T>C	ENSP00000506739.1:n.2185+13493T>C
ENST00000683270.1:c.3575T>C	ENSP00000507624.1:p.Ile1192Thr
ENST00000683367.1:c.2177-10808T>C	ENSP00000507780.1:n.2177-10808T>C
ENST00000683489.1:c.2291+1293T>C	ENSP00000508403.1:n.2291+1293T>C
ENST00000683680.1:c.2318+1293T>C	ENSP00000507223.1:n.2318+1293T>C
ENST00000684163.1:c.2203+6519T>C	ENSP00000508262.1:n.2203+6519T>C
ENST00000684196.1:n.4543-10808T>C
ENST00000684325.1:c.2185+13493T>C	ENSP00000508121.1:n.2185+13493T>C
ENST00000684385.1:c.2220+6519T>C	ENSP00000507855.1:n.2220+6519T>C
ENST00000684497.1:c.2185+13493T>C	ENSP00000507057.1:n.2185+13493T>C
ENST00000382292.9:c.3584T>C MANE Select	ENSP00000371729.3:p.Ile1195Thr
ENST00000423156.2:c.2186-10808T>C	ENSP00000390925.2:n.2186-10808T>C
ENST00000455470.6:c.2431+1153T>C	ENSP00000406565.2:n.2431+1153T>C
ENST00000382292.7:c.3584T>C	ENSP00000371729.3:p.Ile1195Thr
ENST00000382298.7:c.3584T>C	ENSP00000371735.3:p.Ile1195Thr
ENST00000402364.1:c.1334T>C	ENSP00000385844.1:p.Ile445Thr
ENST00000423156.1:c.1058-10808T>C	ENSP00000390925.1:n.1058-10808T>C
ENST00000455470.5:c.2129+1153T>C
NM_001278055.1:c.3143T>C	NP_001264984.1:p.Ile1048Thr
NM_014363.5:c.3584T>C	NP_055178.3:p.Ile1195Thr
XM_005266338.1:c.3611T>C	XP_005266395.1:p.Ile1204Thr
XM_011535038.1:c.3635T>C	XP_011533340.1:p.Ile1212Thr
XM_011535039.1:c.3602T>C	XP_011533341.1:p.Ile1201Thr
XM_005266338.2:c.3611T>C	XP_005266395.1:p.Ile1204Thr
XM_011535039.2:c.3602T>C	XP_011533341.1:p.Ile1201Thr
XM_017020539.1:c.3575T>C	XP_016876028.1:p.Ile1192Thr
XM_024449337.1:c.3611T>C	XP_024305105.1:p.Ile1204Thr
NM_014363.6:c.3584T>C MANE Select	NP_055178.3:p.Ile1195Thr
NM_001278055.2:c.3143T>C	NP_001264984.1:p.Ile1048Thr