Canonical Allele Identifier: CA246662557

Gene: SACS

Linked Data

• ClinVar Variation Id: 2731376
• ClinVar RCV Id: RCV003588342
• dbSNP Id: rs760622262
• gnomAD v2: 13-23914906-A-G
• gnomAD v4: 13-23340767-A-G
• MyVariant Identifiers: chr13:g.23914906A>G (hg19) ; chr13:g.23340767A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340767A>G , CM000675.2:g.23340767A>G	GRCh38
NC_000013.10:g.23914906A>G , CM000675.1:g.23914906A>G	GRCh37
NC_000013.9:g.22812906A>G	NCBI36
NG_012342.1:g.97936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13018T>C	ENSP00000508399.1:n.2185+13018T>C
ENST00000682944.1:c.3136T>C	ENSP00000507173.1:p.Leu1046=
ENST00000683210.1:c.2185+13018T>C	ENSP00000506739.1:n.2185+13018T>C
ENST00000683270.1:c.3100T>C	ENSP00000507624.1:p.Leu1034=
ENST00000683367.1:c.2177-11283T>C	ENSP00000507780.1:n.2177-11283T>C
ENST00000683489.1:c.2291+818T>C	ENSP00000508403.1:n.2291+818T>C
ENST00000683680.1:c.2318+818T>C	ENSP00000507223.1:n.2318+818T>C
ENST00000684163.1:c.2203+6044T>C	ENSP00000508262.1:n.2203+6044T>C
ENST00000684196.1:n.4543-11283T>C
ENST00000684325.1:c.2185+13018T>C	ENSP00000508121.1:n.2185+13018T>C
ENST00000684385.1:c.2220+6044T>C	ENSP00000507855.1:n.2220+6044T>C
ENST00000684497.1:c.2185+13018T>C	ENSP00000507057.1:n.2185+13018T>C
ENST00000382292.9:c.3109T>C MANE Select	ENSP00000371729.3:p.Leu1037=
ENST00000423156.2:c.2186-11283T>C	ENSP00000390925.2:n.2186-11283T>C
ENST00000455470.6:c.2431+678T>C	ENSP00000406565.2:n.2431+678T>C
ENST00000382292.7:c.3109T>C	ENSP00000371729.3:p.Leu1037=
ENST00000382298.7:c.3109T>C	ENSP00000371735.3:p.Leu1037=
ENST00000402364.1:c.859T>C	ENSP00000385844.1:p.Leu287=
ENST00000423156.1:c.1058-11283T>C	ENSP00000390925.1:n.1058-11283T>C
ENST00000455470.5:c.2129+678T>C
NM_001278055.1:c.2668T>C	NP_001264984.1:p.Leu890=
NM_014363.5:c.3109T>C	NP_055178.3:p.Leu1037=
XM_005266338.1:c.3136T>C	XP_005266395.1:p.Leu1046=
XM_011535038.1:c.3160T>C	XP_011533340.1:p.Leu1054=
XM_011535039.1:c.3127T>C	XP_011533341.1:p.Leu1043=
XM_005266338.2:c.3136T>C	XP_005266395.1:p.Leu1046=
XM_011535039.2:c.3127T>C	XP_011533341.1:p.Leu1043=
XM_017020539.1:c.3100T>C	XP_016876028.1:p.Leu1034=
XM_024449337.1:c.3136T>C	XP_024305105.1:p.Leu1046=
NM_014363.6:c.3109T>C MANE Select	NP_055178.3:p.Leu1037=
NM_001278055.2:c.2668T>C	NP_001264984.1:p.Leu890=