Canonical Allele Identifier: CA246659267

Gene: SACS

Linked Data

• ClinVar Variation Id: 1123530
• ClinVar RCV Id: RCV001454574
• dbSNP Id: rs1034825215
• gnomAD v2: 13-23912693-A-G
• gnomAD v3: 13-23338554-A-G
• gnomAD v4: 13-23338554-A-G
• MyVariant Identifiers: chr13:g.23912693A>G (hg19) ; chr13:g.23338554A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338554A>G , CM000675.2:g.23338554A>G	GRCh38
NC_000013.10:g.23912693A>G , CM000675.1:g.23912693A>G	GRCh37
NC_000013.9:g.22810693A>G	NCBI36
NG_012342.1:g.100149T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15231T>C	ENSP00000508399.1:n.2185+15231T>C
ENST00000682944.1:c.5349T>C	ENSP00000507173.1:p.Ile1783=
ENST00000683210.1:c.2185+15231T>C	ENSP00000506739.1:n.2185+15231T>C
ENST00000683270.1:c.5313T>C	ENSP00000507624.1:p.Ile1771=
ENST00000683367.1:c.2177-9070T>C	ENSP00000507780.1:n.2177-9070T>C
ENST00000683489.1:c.2291+3031T>C	ENSP00000508403.1:n.2291+3031T>C
ENST00000683680.1:c.2318+3031T>C	ENSP00000507223.1:n.2318+3031T>C
ENST00000684163.1:c.2203+8257T>C	ENSP00000508262.1:n.2203+8257T>C
ENST00000684196.1:n.4543-9070T>C
ENST00000684325.1:c.2185+15231T>C	ENSP00000508121.1:n.2185+15231T>C
ENST00000684385.1:c.2220+8257T>C	ENSP00000507855.1:n.2220+8257T>C
ENST00000684497.1:c.2185+15231T>C	ENSP00000507057.1:n.2185+15231T>C
ENST00000382292.9:c.5322T>C MANE Select	ENSP00000371729.3:p.Ile1774=
ENST00000423156.2:c.2186-9070T>C	ENSP00000390925.2:n.2186-9070T>C
ENST00000455470.6:c.2431+2891T>C	ENSP00000406565.2:n.2431+2891T>C
ENST00000382292.7:c.5322T>C	ENSP00000371729.3:p.Ile1774=
ENST00000382298.7:c.5322T>C	ENSP00000371735.3:p.Ile1774=
ENST00000402364.1:c.3072T>C	ENSP00000385844.1:p.Ile1024=
ENST00000423156.1:c.1058-9070T>C	ENSP00000390925.1:n.1058-9070T>C
ENST00000455470.5:c.2129+2891T>C
NM_001278055.1:c.4881T>C	NP_001264984.1:p.Ile1627=
NM_014363.5:c.5322T>C	NP_055178.3:p.Ile1774=
XM_005266338.1:c.5349T>C	XP_005266395.1:p.Ile1783=
XM_011535038.1:c.5373T>C	XP_011533340.1:p.Ile1791=
XM_011535039.1:c.5340T>C	XP_011533341.1:p.Ile1780=
XM_005266338.2:c.5349T>C	XP_005266395.1:p.Ile1783=
XM_011535039.2:c.5340T>C	XP_011533341.1:p.Ile1780=
XM_017020539.1:c.5313T>C	XP_016876028.1:p.Ile1771=
XM_024449337.1:c.5349T>C	XP_024305105.1:p.Ile1783=
NM_014363.6:c.5322T>C MANE Select	NP_055178.3:p.Ile1774=
NM_001278055.2:c.4881T>C	NP_001264984.1:p.Ile1627=