Canonical Allele Identifier: CA6911110

Gene: SACS

Linked Data

• ClinVar Variation Id: 2883001
• ClinVar RCV Id: RCV003750437
• dbSNP Id: rs773786550
• ExAC: 13:23911759 C / T
• gnomAD v2: 13-23911759-C-T
• gnomAD v3: 13-23337620-C-T
• gnomAD v4: 13-23337620-C-T
• MyVariant Identifiers: chr13:g.23911759C>T (hg19) ; chr13:g.23337620C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337620C>T , CM000675.2:g.23337620C>T	GRCh38
NC_000013.10:g.23911759C>T , CM000675.1:g.23911759C>T	GRCh37
NC_000013.9:g.22809759C>T	NCBI36
NG_012342.1:g.101083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16165G>A	ENSP00000508399.1:n.2185+16165G>A
ENST00000682944.1:c.6283G>A	ENSP00000507173.1:p.Asp2095Asn
ENST00000683210.1:c.2185+16165G>A	ENSP00000506739.1:n.2185+16165G>A
ENST00000683270.1:c.6247G>A	ENSP00000507624.1:p.Asp2083Asn
ENST00000683367.1:c.2177-8136G>A	ENSP00000507780.1:n.2177-8136G>A
ENST00000683489.1:c.2291+3965G>A	ENSP00000508403.1:n.2291+3965G>A
ENST00000683680.1:c.2318+3965G>A	ENSP00000507223.1:n.2318+3965G>A
ENST00000684163.1:c.2204-8136G>A	ENSP00000508262.1:n.2204-8136G>A
ENST00000684196.1:n.4543-8136G>A
ENST00000684325.1:c.2186-15946G>A	ENSP00000508121.1:n.2186-15946G>A
ENST00000684385.1:c.2221-8136G>A	ENSP00000507855.1:n.2221-8136G>A
ENST00000684497.1:c.2186-14976G>A	ENSP00000507057.1:n.2186-14976G>A
ENST00000382292.9:c.6256G>A MANE Select	ENSP00000371729.3:p.Asp2086Asn
ENST00000423156.2:c.2186-8136G>A	ENSP00000390925.2:n.2186-8136G>A
ENST00000455470.6:c.2431+3825G>A	ENSP00000406565.2:n.2431+3825G>A
ENST00000382292.7:c.6256G>A	ENSP00000371729.3:p.Asp2086Asn
ENST00000382298.7:c.6256G>A	ENSP00000371735.3:p.Asp2086Asn
ENST00000402364.1:c.4006G>A	ENSP00000385844.1:p.Asp1336Asn
ENST00000423156.1:c.1058-8136G>A	ENSP00000390925.1:n.1058-8136G>A
ENST00000455470.5:c.2129+3825G>A
NM_001278055.1:c.5815G>A	NP_001264984.1:p.Asp1939Asn
NM_014363.5:c.6256G>A	NP_055178.3:p.Asp2086Asn
XM_005266338.1:c.6283G>A	XP_005266395.1:p.Asp2095Asn
XM_011535038.1:c.6307G>A	XP_011533340.1:p.Asp2103Asn
XM_011535039.1:c.6274G>A	XP_011533341.1:p.Asp2092Asn
XM_005266338.2:c.6283G>A	XP_005266395.1:p.Asp2095Asn
XM_011535039.2:c.6274G>A	XP_011533341.1:p.Asp2092Asn
XM_017020539.1:c.6247G>A	XP_016876028.1:p.Asp2083Asn
XM_024449337.1:c.6283G>A	XP_024305105.1:p.Asp2095Asn
NM_014363.6:c.6256G>A MANE Select	NP_055178.3:p.Asp2086Asn
NM_001278055.2:c.5815G>A	NP_001264984.1:p.Asp1939Asn