Canonical Allele Identifier: CA6910362

Gene: SACS

Linked Data

• ClinVar Variation Id: 2720928
• ClinVar RCV Id: RCV003590834
• dbSNP Id: rs768293496
• ExAC: 13:23907049 G / T
• gnomAD v2: 13-23907049-G-T
• gnomAD v3: 13-23332910-G-T
• gnomAD v4: 13-23332910-G-T
• MyVariant Identifiers: chr13:g.23907049G>T (hg19) ; chr13:g.23332910G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332910G>T , CM000675.2:g.23332910G>T	GRCh38
NC_000013.10:g.23907049G>T , CM000675.1:g.23907049G>T	GRCh37
NC_000013.9:g.22805049G>T	NCBI36
NG_012342.1:g.105793C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20795C>A	ENSP00000508399.1:n.2186-20795C>A
ENST00000682944.1:c.10993C>A	ENSP00000507173.1:p.Pro3665Thr
ENST00000683210.1:c.2185+20875C>A	ENSP00000506739.1:n.2185+20875C>A
ENST00000683270.1:c.6446-3426C>A	ENSP00000507624.1:n.6446-3426C>A
ENST00000683367.1:c.2177-3426C>A	ENSP00000507780.1:n.2177-3426C>A
ENST00000683489.1:c.2292-2958C>A	ENSP00000508403.1:n.2292-2958C>A
ENST00000683680.1:c.2319-2958C>A	ENSP00000507223.1:n.2319-2958C>A
ENST00000684163.1:c.2204-3426C>A	ENSP00000508262.1:n.2204-3426C>A
ENST00000684196.1:n.4543-3426C>A
ENST00000684325.1:c.2186-11236C>A	ENSP00000508121.1:n.2186-11236C>A
ENST00000684385.1:c.2221-3426C>A	ENSP00000507855.1:n.2221-3426C>A
ENST00000684497.1:c.2186-10266C>A	ENSP00000507057.1:n.2186-10266C>A
ENST00000382292.9:c.10966C>A MANE Select	ENSP00000371729.3:p.Pro3656Thr
ENST00000423156.2:c.2186-3426C>A	ENSP00000390925.2:n.2186-3426C>A
ENST00000455470.6:c.2432-3426C>A	ENSP00000406565.2:n.2432-3426C>A
ENST00000382292.7:c.10966C>A	ENSP00000371729.3:p.Pro3656Thr
ENST00000382298.7:c.10966C>A	ENSP00000371735.3:p.Pro3656Thr
ENST00000402364.1:c.8716C>A	ENSP00000385844.1:p.Pro2906Thr
ENST00000423156.1:c.1058-3426C>A	ENSP00000390925.1:n.1058-3426C>A
ENST00000455470.5:c.2130-3426C>A
NM_001278055.1:c.10525C>A	NP_001264984.1:p.Pro3509Thr
NM_014363.5:c.10966C>A	NP_055178.3:p.Pro3656Thr
XM_005266338.1:c.10993C>A	XP_005266395.1:p.Pro3665Thr
XM_011535038.1:c.11017C>A	XP_011533340.1:p.Pro3673Thr
XM_011535039.1:c.10984C>A	XP_011533341.1:p.Pro3662Thr
XM_005266338.2:c.10993C>A	XP_005266395.1:p.Pro3665Thr
XM_011535039.2:c.10984C>A	XP_011533341.1:p.Pro3662Thr
XM_017020539.1:c.10957C>A	XP_016876028.1:p.Pro3653Thr
XM_024449337.1:c.10993C>A	XP_024305105.1:p.Pro3665Thr
NM_014363.6:c.10966C>A MANE Select	NP_055178.3:p.Pro3656Thr
NM_001278055.2:c.10525C>A	NP_001264984.1:p.Pro3509Thr