Canonical Allele Identifier: CA387518383

Gene: SACS

Linked Data

• ClinVar Variation Id: 2299793
• ClinVar RCV Id: RCV002878195
• gnomAD v4: 13-23336152-A-G
• MyVariant Identifiers: chr13:g.23910291A>G (hg19) ; chr13:g.23336152A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336152A>G , CM000675.2:g.23336152A>G	GRCh38
NC_000013.10:g.23910291A>G , CM000675.1:g.23910291A>G	GRCh37
NC_000013.9:g.22808291A>G	NCBI36
NG_012342.1:g.102551T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17633T>C	ENSP00000508399.1:n.2185+17633T>C
ENST00000682944.1:c.7751T>C	ENSP00000507173.1:p.Ile2584Thr
ENST00000683210.1:c.2185+17633T>C	ENSP00000506739.1:n.2185+17633T>C
ENST00000683270.1:c.6445+1270T>C	ENSP00000507624.1:n.6445+1270T>C
ENST00000683367.1:c.2177-6668T>C	ENSP00000507780.1:n.2177-6668T>C
ENST00000683489.1:c.2291+5433T>C	ENSP00000508403.1:n.2291+5433T>C
ENST00000683680.1:c.2318+5433T>C	ENSP00000507223.1:n.2318+5433T>C
ENST00000684163.1:c.2204-6668T>C	ENSP00000508262.1:n.2204-6668T>C
ENST00000684196.1:n.4543-6668T>C
ENST00000684325.1:c.2186-14478T>C	ENSP00000508121.1:n.2186-14478T>C
ENST00000684385.1:c.2221-6668T>C	ENSP00000507855.1:n.2221-6668T>C
ENST00000684497.1:c.2186-13508T>C	ENSP00000507057.1:n.2186-13508T>C
ENST00000382292.9:c.7724T>C MANE Select	ENSP00000371729.3:p.Ile2575Thr
ENST00000423156.2:c.2186-6668T>C	ENSP00000390925.2:n.2186-6668T>C
ENST00000455470.6:c.2431+5293T>C	ENSP00000406565.2:n.2431+5293T>C
ENST00000382292.7:c.7724T>C	ENSP00000371729.3:p.Ile2575Thr
ENST00000382298.7:c.7724T>C	ENSP00000371735.3:p.Ile2575Thr
ENST00000402364.1:c.5474T>C	ENSP00000385844.1:p.Ile1825Thr
ENST00000423156.1:c.1058-6668T>C	ENSP00000390925.1:n.1058-6668T>C
ENST00000455470.5:c.2129+5293T>C
NM_001278055.1:c.7283T>C	NP_001264984.1:p.Ile2428Thr
NM_014363.5:c.7724T>C	NP_055178.3:p.Ile2575Thr
XM_005266338.1:c.7751T>C	XP_005266395.1:p.Ile2584Thr
XM_011535038.1:c.7775T>C	XP_011533340.1:p.Ile2592Thr
XM_011535039.1:c.7742T>C	XP_011533341.1:p.Ile2581Thr
XM_005266338.2:c.7751T>C	XP_005266395.1:p.Ile2584Thr
XM_011535039.2:c.7742T>C	XP_011533341.1:p.Ile2581Thr
XM_017020539.1:c.7715T>C	XP_016876028.1:p.Ile2572Thr
XM_024449337.1:c.7751T>C	XP_024305105.1:p.Ile2584Thr
NM_014363.6:c.7724T>C MANE Select	NP_055178.3:p.Ile2575Thr
NM_001278055.2:c.7283T>C	NP_001264984.1:p.Ile2428Thr