Canonical Allele Identifier: CA6911708

Gene: SACS

Linked Data

• ClinVar Variation Id: 1307754
• ClinVar RCV Id: RCV001772609 ; RCV002034472
• dbSNP Id: rs147837803
• ExAC: 13:23915686 A / G
• gnomAD v2: 13-23915686-A-G
• gnomAD v3: 13-23341547-A-G
• gnomAD v4: 13-23341547-A-G
• MyVariant Identifiers: chr13:g.23915686A>G (hg19) ; chr13:g.23341547A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341547A>G , CM000675.2:g.23341547A>G	GRCh38
NC_000013.10:g.23915686A>G , CM000675.1:g.23915686A>G	GRCh37
NC_000013.9:g.22813686A>G	NCBI36
NG_012342.1:g.97156T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+12238T>C	ENSP00000508399.1:n.2185+12238T>C
ENST00000682944.1:c.2356T>C	ENSP00000507173.1:p.Ser786Pro
ENST00000683210.1:c.2185+12238T>C	ENSP00000506739.1:n.2185+12238T>C
ENST00000683270.1:c.2320T>C	ENSP00000507624.1:p.Ser774Pro
ENST00000683367.1:c.2177-12063T>C	ENSP00000507780.1:n.2177-12063T>C
ENST00000683489.1:c.2291+38T>C	ENSP00000508403.1:n.2291+38T>C
ENST00000683680.1:c.2318+38T>C	ENSP00000507223.1:n.2318+38T>C
ENST00000684163.1:c.2203+5264T>C	ENSP00000508262.1:n.2203+5264T>C
ENST00000684196.1:n.4543-12063T>C
ENST00000684325.1:c.2185+12238T>C	ENSP00000508121.1:n.2185+12238T>C
ENST00000684385.1:c.2220+5264T>C	ENSP00000507855.1:n.2220+5264T>C
ENST00000684497.1:c.2185+12238T>C	ENSP00000507057.1:n.2185+12238T>C
ENST00000382292.9:c.2329T>C MANE Select	ENSP00000371729.3:p.Ser777Pro
ENST00000423156.2:c.2186-12063T>C	ENSP00000390925.2:n.2186-12063T>C
ENST00000455470.6:c.2329T>C	ENSP00000406565.2:p.Ser777Pro
ENST00000382292.7:c.2329T>C	ENSP00000371729.3:p.Ser777Pro
ENST00000382298.7:c.2329T>C	ENSP00000371735.3:p.Ser777Pro
ENST00000402364.1:c.79T>C	ENSP00000385844.1:p.Ser27Pro
ENST00000423156.1:c.1058-12063T>C	ENSP00000390925.1:n.1058-12063T>C
ENST00000455470.5:c.2027T>C
NM_001278055.1:c.1888T>C	NP_001264984.1:p.Ser630Pro
NM_014363.5:c.2329T>C	NP_055178.3:p.Ser777Pro
XM_005266338.1:c.2356T>C	XP_005266395.1:p.Ser786Pro
XM_011535038.1:c.2380T>C	XP_011533340.1:p.Ser794Pro
XM_011535039.1:c.2347T>C	XP_011533341.1:p.Ser783Pro
XM_005266338.2:c.2356T>C	XP_005266395.1:p.Ser786Pro
XM_011535039.2:c.2347T>C	XP_011533341.1:p.Ser783Pro
XM_017020539.1:c.2320T>C	XP_016876028.1:p.Ser774Pro
XM_024449337.1:c.2356T>C	XP_024305105.1:p.Ser786Pro
NM_014363.6:c.2329T>C MANE Select	NP_055178.3:p.Ser777Pro
NM_001278055.2:c.1888T>C	NP_001264984.1:p.Ser630Pro