Canonical Allele Identifier: CA483157495

Gene: SACS

Linked Data

• ClinVar Variation Id: 751427
• ClinVar RCV Id: RCV000928492 ; RCV001272177
• dbSNP Id: rs1593119067
• gnomAD v3: 13-23330370-T-C
• gnomAD v4: 13-23330370-T-C
• MyVariant Identifiers: chr13:g.23904509T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330370T>C , CM000675.2:g.23330370T>C	GRCh38
NC_000013.10:g.23904509T>C , CM000675.1:g.23904509T>C	GRCh37
NC_000013.9:g.22802509T>C	NCBI36
NG_012342.1:g.108333A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18255A>G	ENSP00000508399.1:n.2186-18255A>G
ENST00000682944.1:c.13533A>G	ENSP00000507173.1:p.Pro4511=
ENST00000683210.1:c.2185+23415A>G	ENSP00000506739.1:n.2185+23415A>G
ENST00000683270.1:c.6446-886A>G	ENSP00000507624.1:n.6446-886A>G
ENST00000683367.1:c.2177-886A>G	ENSP00000507780.1:n.2177-886A>G
ENST00000683489.1:c.2292-418A>G	ENSP00000508403.1:n.2292-418A>G
ENST00000683680.1:c.2319-418A>G	ENSP00000507223.1:n.2319-418A>G
ENST00000684163.1:c.2204-886A>G	ENSP00000508262.1:n.2204-886A>G
ENST00000684196.1:n.4543-886A>G
ENST00000684325.1:c.2186-8696A>G	ENSP00000508121.1:n.2186-8696A>G
ENST00000684385.1:c.2221-886A>G	ENSP00000507855.1:n.2221-886A>G
ENST00000684497.1:c.2186-7726A>G	ENSP00000507057.1:n.2186-7726A>G
ENST00000382292.9:c.13506A>G MANE Select	ENSP00000371729.3:p.Pro4502=
ENST00000423156.2:c.2186-886A>G	ENSP00000390925.2:n.2186-886A>G
ENST00000455470.6:c.2432-886A>G	ENSP00000406565.2:n.2432-886A>G
ENST00000382292.7:c.13506A>G	ENSP00000371729.3:p.Pro4502=
ENST00000382298.7:c.13506A>G	ENSP00000371735.3:p.Pro4502=
ENST00000402364.1:c.11256A>G	ENSP00000385844.1:p.Pro3752=
ENST00000423156.1:c.1058-886A>G	ENSP00000390925.1:n.1058-886A>G
ENST00000455470.5:c.2130-886A>G
NM_001278055.1:c.13065A>G	NP_001264984.1:p.Pro4355=
NM_014363.5:c.13506A>G	NP_055178.3:p.Pro4502=
XM_005266338.1:c.13533A>G	XP_005266395.1:p.Pro4511=
XM_011535038.1:c.13557A>G	XP_011533340.1:p.Pro4519=
XM_011535039.1:c.13524A>G	XP_011533341.1:p.Pro4508=
XM_005266338.2:c.13533A>G	XP_005266395.1:p.Pro4511=
XM_011535039.2:c.13524A>G	XP_011533341.1:p.Pro4508=
XM_017020539.1:c.13497A>G	XP_016876028.1:p.Pro4499=
XM_024449337.1:c.13533A>G	XP_024305105.1:p.Pro4511=
NM_014363.6:c.13506A>G MANE Select	NP_055178.3:p.Pro4502=
NM_001278055.2:c.13065A>G	NP_001264984.1:p.Pro4355=