Canonical Allele Identifier: CA6911676

Gene: SACS

Linked Data

• ClinVar Variation Id: 653805
• ClinVar RCV Id: RCV000809636 ; RCV003955520
• dbSNP Id: rs769153924
• ExAC: 13:23915506 G / A
• gnomAD v2: 13-23915506-G-A
• gnomAD v3: 13-23341367-G-A
• gnomAD v4: 13-23341367-G-A
• MyVariant Identifiers: chr13:g.23915506G>A (hg19) ; chr13:g.23341367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341367G>A , CM000675.2:g.23341367G>A	GRCh38
NC_000013.10:g.23915506G>A , CM000675.1:g.23915506G>A	GRCh37
NC_000013.9:g.22813506G>A	NCBI36
NG_012342.1:g.97336C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+12418C>T	ENSP00000508399.1:n.2185+12418C>T
ENST00000682944.1:c.2536C>T	ENSP00000507173.1:p.Pro846Ser
ENST00000683210.1:c.2185+12418C>T	ENSP00000506739.1:n.2185+12418C>T
ENST00000683270.1:c.2500C>T	ENSP00000507624.1:p.Pro834Ser
ENST00000683367.1:c.2177-11883C>T	ENSP00000507780.1:n.2177-11883C>T
ENST00000683489.1:c.2291+218C>T	ENSP00000508403.1:n.2291+218C>T
ENST00000683680.1:c.2318+218C>T	ENSP00000507223.1:n.2318+218C>T
ENST00000684163.1:c.2203+5444C>T	ENSP00000508262.1:n.2203+5444C>T
ENST00000684196.1:n.4543-11883C>T
ENST00000684325.1:c.2185+12418C>T	ENSP00000508121.1:n.2185+12418C>T
ENST00000684385.1:c.2220+5444C>T	ENSP00000507855.1:n.2220+5444C>T
ENST00000684497.1:c.2185+12418C>T	ENSP00000507057.1:n.2185+12418C>T
ENST00000382292.9:c.2509C>T MANE Select	ENSP00000371729.3:p.Pro837Ser
ENST00000423156.2:c.2186-11883C>T	ENSP00000390925.2:n.2186-11883C>T
ENST00000455470.6:c.2431+78C>T	ENSP00000406565.2:n.2431+78C>T
ENST00000382292.7:c.2509C>T	ENSP00000371729.3:p.Pro837Ser
ENST00000382298.7:c.2509C>T	ENSP00000371735.3:p.Pro837Ser
ENST00000402364.1:c.259C>T	ENSP00000385844.1:p.Pro87Ser
ENST00000423156.1:c.1058-11883C>T	ENSP00000390925.1:n.1058-11883C>T
ENST00000455470.5:c.2129+78C>T
NM_001278055.1:c.2068C>T	NP_001264984.1:p.Pro690Ser
NM_014363.5:c.2509C>T	NP_055178.3:p.Pro837Ser
XM_005266338.1:c.2536C>T	XP_005266395.1:p.Pro846Ser
XM_011535038.1:c.2560C>T	XP_011533340.1:p.Pro854Ser
XM_011535039.1:c.2527C>T	XP_011533341.1:p.Pro843Ser
XM_005266338.2:c.2536C>T	XP_005266395.1:p.Pro846Ser
XM_011535039.2:c.2527C>T	XP_011533341.1:p.Pro843Ser
XM_017020539.1:c.2500C>T	XP_016876028.1:p.Pro834Ser
XM_024449337.1:c.2536C>T	XP_024305105.1:p.Pro846Ser
NM_014363.6:c.2509C>T MANE Select	NP_055178.3:p.Pro837Ser
NM_001278055.2:c.2068C>T	NP_001264984.1:p.Pro690Ser