Canonical Allele Identifier: CA208864

Gene: SACS

Linked Data

• ClinVar Variation Id: 193706
• ClinVar RCV Id: RCV000194599 ; RCV000515329 ; RCV001082339 ; RCV000710206 ; RCV001847803 ; RCV003937553
• dbSNP Id: rs146451611
• ExAC: 13:23913939 A / G
• gnomAD v2: 13-23913939-A-G
• gnomAD v3: 13-23339800-A-G
• gnomAD v4: 13-23339800-A-G
• MyVariant Identifiers: chr13:g.23913939A>G (hg19) ; chr13:g.23339800A>G (hg38)
• PubMed: PMID:22287014 ; PMID:27980752

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339800A>G , CM000675.2:g.23339800A>G	GRCh38
NC_000013.10:g.23913939A>G , CM000675.1:g.23913939A>G	GRCh37
NC_000013.9:g.22811939A>G	NCBI36
NG_012342.1:g.98903T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13985T>C	ENSP00000508399.1:n.2185+13985T>C
ENST00000682944.1:c.4103T>C	ENSP00000507173.1:p.Met1368Thr
ENST00000683210.1:c.2185+13985T>C	ENSP00000506739.1:n.2185+13985T>C
ENST00000683270.1:c.4067T>C	ENSP00000507624.1:p.Met1356Thr
ENST00000683367.1:c.2177-10316T>C	ENSP00000507780.1:n.2177-10316T>C
ENST00000683489.1:c.2291+1785T>C	ENSP00000508403.1:n.2291+1785T>C
ENST00000683680.1:c.2318+1785T>C	ENSP00000507223.1:n.2318+1785T>C
ENST00000684163.1:c.2203+7011T>C	ENSP00000508262.1:n.2203+7011T>C
ENST00000684196.1:n.4543-10316T>C
ENST00000684325.1:c.2185+13985T>C	ENSP00000508121.1:n.2185+13985T>C
ENST00000684385.1:c.2220+7011T>C	ENSP00000507855.1:n.2220+7011T>C
ENST00000684497.1:c.2185+13985T>C	ENSP00000507057.1:n.2185+13985T>C
ENST00000382292.9:c.4076T>C MANE Select	ENSP00000371729.3:p.Met1359Thr
ENST00000423156.2:c.2186-10316T>C	ENSP00000390925.2:n.2186-10316T>C
ENST00000455470.6:c.2431+1645T>C	ENSP00000406565.2:n.2431+1645T>C
ENST00000382292.7:c.4076T>C	ENSP00000371729.3:p.Met1359Thr
ENST00000382298.7:c.4076T>C	ENSP00000371735.3:p.Met1359Thr
ENST00000402364.1:c.1826T>C	ENSP00000385844.1:p.Met609Thr
ENST00000423156.1:c.1058-10316T>C	ENSP00000390925.1:n.1058-10316T>C
ENST00000455470.5:c.2129+1645T>C
NM_001278055.1:c.3635T>C	NP_001264984.1:p.Met1212Thr
NM_014363.5:c.4076T>C	NP_055178.3:p.Met1359Thr
XM_005266338.1:c.4103T>C	XP_005266395.1:p.Met1368Thr
XM_011535038.1:c.4127T>C	XP_011533340.1:p.Met1376Thr
XM_011535039.1:c.4094T>C	XP_011533341.1:p.Met1365Thr
XM_005266338.2:c.4103T>C	XP_005266395.1:p.Met1368Thr
XM_011535039.2:c.4094T>C	XP_011533341.1:p.Met1365Thr
XM_017020539.1:c.4067T>C	XP_016876028.1:p.Met1356Thr
XM_024449337.1:c.4103T>C	XP_024305105.1:p.Met1368Thr
NM_014363.6:c.4076T>C MANE Select	NP_055178.3:p.Met1359Thr
NM_001278055.2:c.3635T>C	NP_001264984.1:p.Met1212Thr