Canonical Allele Identifier: CA246647651

Gene: SACS

Linked Data

• ClinVar Variation Id: 1540282
• ClinVar RCV Id: RCV002169832
• dbSNP Id: rs749846446
• gnomAD v4: 13-23330247-G-C
• MyVariant Identifiers: chr13:g.23904386G>C (hg19) ; chr13:g.23330247G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330247G>C , CM000675.2:g.23330247G>C	GRCh38
NC_000013.10:g.23904386G>C , CM000675.1:g.23904386G>C	GRCh37
NC_000013.9:g.22802386G>C	NCBI36
NG_012342.1:g.108456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18132C>G	ENSP00000508399.1:n.2186-18132C>G
ENST00000682944.1:c.13656C>G	ENSP00000507173.1:p.Pro4552=
ENST00000683210.1:c.2185+23538C>G	ENSP00000506739.1:n.2185+23538C>G
ENST00000683270.1:c.6446-763C>G	ENSP00000507624.1:n.6446-763C>G
ENST00000683367.1:c.2177-763C>G	ENSP00000507780.1:n.2177-763C>G
ENST00000683489.1:c.2292-295C>G	ENSP00000508403.1:n.2292-295C>G
ENST00000683680.1:c.2319-295C>G	ENSP00000507223.1:n.2319-295C>G
ENST00000684163.1:c.2204-763C>G	ENSP00000508262.1:n.2204-763C>G
ENST00000684196.1:n.4543-763C>G
ENST00000684325.1:c.2186-8573C>G	ENSP00000508121.1:n.2186-8573C>G
ENST00000684385.1:c.2221-763C>G	ENSP00000507855.1:n.2221-763C>G
ENST00000684497.1:c.2186-7603C>G	ENSP00000507057.1:n.2186-7603C>G
ENST00000382292.9:c.13629C>G MANE Select	ENSP00000371729.3:p.Pro4543=
ENST00000423156.2:c.2186-763C>G	ENSP00000390925.2:n.2186-763C>G
ENST00000455470.6:c.2432-763C>G	ENSP00000406565.2:n.2432-763C>G
ENST00000382292.7:c.13629C>G	ENSP00000371729.3:p.Pro4543=
ENST00000382298.7:c.13629C>G	ENSP00000371735.3:p.Pro4543=
ENST00000402364.1:c.11379C>G	ENSP00000385844.1:p.Pro3793=
ENST00000423156.1:c.1058-763C>G	ENSP00000390925.1:n.1058-763C>G
ENST00000455470.5:c.2130-763C>G
NM_001278055.1:c.13188C>G	NP_001264984.1:p.Pro4396=
NM_014363.5:c.13629C>G	NP_055178.3:p.Pro4543=
XM_005266338.1:c.13656C>G	XP_005266395.1:p.Pro4552=
XM_011535038.1:c.13680C>G	XP_011533340.1:p.Pro4560=
XM_011535039.1:c.13647C>G	XP_011533341.1:p.Pro4549=
XM_005266338.2:c.13656C>G	XP_005266395.1:p.Pro4552=
XM_011535039.2:c.13647C>G	XP_011533341.1:p.Pro4549=
XM_017020539.1:c.13620C>G	XP_016876028.1:p.Pro4540=
XM_024449337.1:c.13656C>G	XP_024305105.1:p.Pro4552=
NM_014363.6:c.13629C>G MANE Select	NP_055178.3:p.Pro4543=
NM_001278055.2:c.13188C>G	NP_001264984.1:p.Pro4396=