Canonical Allele Identifier: CA6910132

Gene: SACS

Linked Data

• ClinVar Variation Id: 2053601
• ClinVar RCV Id: RCV002922636
• dbSNP Id: rs767822283
• ExAC: 13:23905427 T / C
• gnomAD v2: 13-23905427-T-C
• gnomAD v4: 13-23331288-T-C
• MyVariant Identifiers: chr13:g.23905427T>C (hg19) ; chr13:g.23331288T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331288T>C , CM000675.2:g.23331288T>C	GRCh38
NC_000013.10:g.23905427T>C , CM000675.1:g.23905427T>C	GRCh37
NC_000013.9:g.22803427T>C	NCBI36
NG_012342.1:g.107415A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19173A>G	ENSP00000508399.1:n.2186-19173A>G
ENST00000682944.1:c.12615A>G	ENSP00000507173.1:p.Ser4205=
ENST00000683210.1:c.2185+22497A>G	ENSP00000506739.1:n.2185+22497A>G
ENST00000683270.1:c.6446-1804A>G	ENSP00000507624.1:n.6446-1804A>G
ENST00000683367.1:c.2177-1804A>G	ENSP00000507780.1:n.2177-1804A>G
ENST00000683489.1:c.2292-1336A>G	ENSP00000508403.1:n.2292-1336A>G
ENST00000683680.1:c.2319-1336A>G	ENSP00000507223.1:n.2319-1336A>G
ENST00000684163.1:c.2204-1804A>G	ENSP00000508262.1:n.2204-1804A>G
ENST00000684196.1:n.4543-1804A>G
ENST00000684325.1:c.2186-9614A>G	ENSP00000508121.1:n.2186-9614A>G
ENST00000684385.1:c.2221-1804A>G	ENSP00000507855.1:n.2221-1804A>G
ENST00000684497.1:c.2186-8644A>G	ENSP00000507057.1:n.2186-8644A>G
ENST00000382292.9:c.12588A>G MANE Select	ENSP00000371729.3:p.Ser4196=
ENST00000423156.2:c.2186-1804A>G	ENSP00000390925.2:n.2186-1804A>G
ENST00000455470.6:c.2432-1804A>G	ENSP00000406565.2:n.2432-1804A>G
ENST00000382292.7:c.12588A>G	ENSP00000371729.3:p.Ser4196=
ENST00000382298.7:c.12588A>G	ENSP00000371735.3:p.Ser4196=
ENST00000402364.1:c.10338A>G	ENSP00000385844.1:p.Ser3446=
ENST00000423156.1:c.1058-1804A>G	ENSP00000390925.1:n.1058-1804A>G
ENST00000455470.5:c.2130-1804A>G
NM_001278055.1:c.12147A>G	NP_001264984.1:p.Ser4049=
NM_014363.5:c.12588A>G	NP_055178.3:p.Ser4196=
XM_005266338.1:c.12615A>G	XP_005266395.1:p.Ser4205=
XM_011535038.1:c.12639A>G	XP_011533340.1:p.Ser4213=
XM_011535039.1:c.12606A>G	XP_011533341.1:p.Ser4202=
XM_005266338.2:c.12615A>G	XP_005266395.1:p.Ser4205=
XM_011535039.2:c.12606A>G	XP_011533341.1:p.Ser4202=
XM_017020539.1:c.12579A>G	XP_016876028.1:p.Ser4193=
XM_024449337.1:c.12615A>G	XP_024305105.1:p.Ser4205=
NM_014363.6:c.12588A>G MANE Select	NP_055178.3:p.Ser4196=
NM_001278055.2:c.12147A>G	NP_001264984.1:p.Ser4049=