Canonical Allele Identifier: CA6910662

Gene: SACS

Linked Data

• ClinVar Variation Id: 863940
• ClinVar RCV Id: RCV001071021 ; RCV001833671
• dbSNP Id: rs761690372
• ExAC: 13:23908887 T / C
• gnomAD v2: 13-23908887-T-C
• gnomAD v4: 13-23334748-T-C
• MyVariant Identifiers: chr13:g.23908887T>C (hg19) ; chr13:g.23334748T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334748T>C , CM000675.2:g.23334748T>C	GRCh38
NC_000013.10:g.23908887T>C , CM000675.1:g.23908887T>C	GRCh37
NC_000013.9:g.22806887T>C	NCBI36
NG_012342.1:g.103955A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19037A>G	ENSP00000508399.1:n.2185+19037A>G
ENST00000682944.1:c.9155A>G	ENSP00000507173.1:p.Tyr3052Cys
ENST00000683210.1:c.2185+19037A>G	ENSP00000506739.1:n.2185+19037A>G
ENST00000683270.1:c.6445+2674A>G	ENSP00000507624.1:n.6445+2674A>G
ENST00000683367.1:c.2177-5264A>G	ENSP00000507780.1:n.2177-5264A>G
ENST00000683489.1:c.2292-4796A>G	ENSP00000508403.1:n.2292-4796A>G
ENST00000683680.1:c.2319-4796A>G	ENSP00000507223.1:n.2319-4796A>G
ENST00000684163.1:c.2204-5264A>G	ENSP00000508262.1:n.2204-5264A>G
ENST00000684196.1:n.4543-5264A>G
ENST00000684325.1:c.2186-13074A>G	ENSP00000508121.1:n.2186-13074A>G
ENST00000684385.1:c.2221-5264A>G	ENSP00000507855.1:n.2221-5264A>G
ENST00000684497.1:c.2186-12104A>G	ENSP00000507057.1:n.2186-12104A>G
ENST00000382292.9:c.9128A>G MANE Select	ENSP00000371729.3:p.Tyr3043Cys
ENST00000423156.2:c.2186-5264A>G	ENSP00000390925.2:n.2186-5264A>G
ENST00000455470.6:c.2432-5264A>G	ENSP00000406565.2:n.2432-5264A>G
ENST00000382292.7:c.9128A>G	ENSP00000371729.3:p.Tyr3043Cys
ENST00000382298.7:c.9128A>G	ENSP00000371735.3:p.Tyr3043Cys
ENST00000402364.1:c.6878A>G	ENSP00000385844.1:p.Tyr2293Cys
ENST00000423156.1:c.1058-5264A>G	ENSP00000390925.1:n.1058-5264A>G
ENST00000455470.5:c.2130-5264A>G
NM_001278055.1:c.8687A>G	NP_001264984.1:p.Tyr2896Cys
NM_014363.5:c.9128A>G	NP_055178.3:p.Tyr3043Cys
XM_005266338.1:c.9155A>G	XP_005266395.1:p.Tyr3052Cys
XM_011535038.1:c.9179A>G	XP_011533340.1:p.Tyr3060Cys
XM_011535039.1:c.9146A>G	XP_011533341.1:p.Tyr3049Cys
XM_005266338.2:c.9155A>G	XP_005266395.1:p.Tyr3052Cys
XM_011535039.2:c.9146A>G	XP_011533341.1:p.Tyr3049Cys
XM_017020539.1:c.9119A>G	XP_016876028.1:p.Tyr3040Cys
XM_024449337.1:c.9155A>G	XP_024305105.1:p.Tyr3052Cys
NM_014363.6:c.9128A>G MANE Select	NP_055178.3:p.Tyr3043Cys
NM_001278055.2:c.8687A>G	NP_001264984.1:p.Tyr2896Cys