Canonical Allele Identifier: CA6911646

Gene: SACS

Linked Data

• ClinVar Variation Id: 311554
• ClinVar RCV Id: RCV000349604 ; RCV000712971 ; RCV001080014 ; RCV001706475
• dbSNP Id: rs201857647
• ExAC: 13:23915334 G / A
• gnomAD v2: 13-23915334-G-A
• gnomAD v3: 13-23341195-G-A
• gnomAD v4: 13-23341195-G-A
• MyVariant Identifiers: chr13:g.23915334G>A (hg19) ; chr13:g.23341195G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341195G>A , CM000675.2:g.23341195G>A	GRCh38
NC_000013.10:g.23915334G>A , CM000675.1:g.23915334G>A	GRCh37
NC_000013.9:g.22813334G>A	NCBI36
NG_012342.1:g.97508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12590C>T	ENSP00000508399.1:n.2185+12590C>T
ENST00000682944.1:c.2708C>T	ENSP00000507173.1:p.Ser903Leu
ENST00000683210.1:c.2185+12590C>T	ENSP00000506739.1:n.2185+12590C>T
ENST00000683270.1:c.2672C>T	ENSP00000507624.1:p.Ser891Leu
ENST00000683367.1:c.2177-11711C>T	ENSP00000507780.1:n.2177-11711C>T
ENST00000683489.1:c.2291+390C>T	ENSP00000508403.1:n.2291+390C>T
ENST00000683680.1:c.2318+390C>T	ENSP00000507223.1:n.2318+390C>T
ENST00000684163.1:c.2203+5616C>T	ENSP00000508262.1:n.2203+5616C>T
ENST00000684196.1:n.4543-11711C>T
ENST00000684325.1:c.2185+12590C>T	ENSP00000508121.1:n.2185+12590C>T
ENST00000684385.1:c.2220+5616C>T	ENSP00000507855.1:n.2220+5616C>T
ENST00000684497.1:c.2185+12590C>T	ENSP00000507057.1:n.2185+12590C>T
ENST00000382292.9:c.2681C>T MANE Select	ENSP00000371729.3:p.Ser894Leu
ENST00000423156.2:c.2186-11711C>T	ENSP00000390925.2:n.2186-11711C>T
ENST00000455470.6:c.2431+250C>T	ENSP00000406565.2:n.2431+250C>T
ENST00000382292.7:c.2681C>T	ENSP00000371729.3:p.Ser894Leu
ENST00000382298.7:c.2681C>T	ENSP00000371735.3:p.Ser894Leu
ENST00000402364.1:c.431C>T	ENSP00000385844.1:p.Ser144Leu
ENST00000423156.1:c.1058-11711C>T	ENSP00000390925.1:n.1058-11711C>T
ENST00000455470.5:c.2129+250C>T
NM_001278055.1:c.2240C>T	NP_001264984.1:p.Ser747Leu
NM_014363.5:c.2681C>T	NP_055178.3:p.Ser894Leu
XM_005266338.1:c.2708C>T	XP_005266395.1:p.Ser903Leu
XM_011535038.1:c.2732C>T	XP_011533340.1:p.Ser911Leu
XM_011535039.1:c.2699C>T	XP_011533341.1:p.Ser900Leu
XM_005266338.2:c.2708C>T	XP_005266395.1:p.Ser903Leu
XM_011535039.2:c.2699C>T	XP_011533341.1:p.Ser900Leu
XM_017020539.1:c.2672C>T	XP_016876028.1:p.Ser891Leu
XM_024449337.1:c.2708C>T	XP_024305105.1:p.Ser903Leu
NM_014363.6:c.2681C>T MANE Select	NP_055178.3:p.Ser894Leu
NM_001278055.2:c.2240C>T	NP_001264984.1:p.Ser747Leu