Canonical Allele Identifier: CA155046

Gene: SACS

Linked Data

• ClinVar Variation Id: 130204
• ClinVar RCV Id: RCV000118233 ; RCV000304888 ; RCV000676376 ; RCV001517662 ; RCV001847721
• dbSNP Id: rs2031640
• ExAC: 13:23930055 A / T
• gnomAD v2: 13-23930055-A-T
• gnomAD v3: 13-23355916-A-T
• gnomAD v4: 13-23355916-A-T
• MyVariant Identifiers: chr13:g.23930055A>T (hg19) ; chr13:g.23355916A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355916A>T , CM000675.2:g.23355916A>T	GRCh38
NC_000013.10:g.23930055A>T , CM000675.1:g.23930055A>T	GRCh37
NC_000013.9:g.22828055A>T	NCBI36
NG_012342.1:g.82787T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.696T>A	ENSP00000508399.1:p.Asn232Lys
ENST00000682944.1:c.696T>A	ENSP00000507173.1:p.Asn232Lys
ENST00000683154.1:n.834T>A
ENST00000683210.1:c.696T>A	ENSP00000506739.1:p.Asn232Lys
ENST00000683270.1:c.687T>A	ENSP00000507624.1:p.Asn229Lys
ENST00000683367.1:c.687T>A	ENSP00000507780.1:p.Asn229Lys
ENST00000683489.1:c.696T>A	ENSP00000508403.1:p.Asn232Lys
ENST00000683680.1:c.696T>A	ENSP00000507223.1:p.Asn232Lys
ENST00000684163.1:c.687T>A	ENSP00000508262.1:p.Asn229Lys
ENST00000684196.1:n.3053T>A
ENST00000684325.1:c.696T>A	ENSP00000508121.1:p.Asn232Lys
ENST00000684385.1:c.696T>A	ENSP00000507855.1:p.Asn232Lys
ENST00000684497.1:c.696T>A	ENSP00000507057.1:p.Asn232Lys
ENST00000382292.9:c.696T>A MANE Select	ENSP00000371729.3:p.Asn232Lys
ENST00000423156.2:c.696T>A	ENSP00000390925.2:p.Asn232Lys
ENST00000455470.6:c.696T>A	ENSP00000406565.2:p.Asn232Lys
ENST00000382292.7:c.696T>A	ENSP00000371729.3:p.Asn232Lys
ENST00000382298.7:c.696T>A	ENSP00000371735.3:p.Asn232Lys
ENST00000402364.1:c.-1555T>A	ENSP00000385844.1:n.-1555T>A
ENST00000455470.5:c.394T>A
NM_001278055.1:c.255T>A	NP_001264984.1:p.Asn85Lys
NM_014363.5:c.696T>A	NP_055178.3:p.Asn232Lys
XM_005266338.1:c.696T>A	XP_005266395.1:p.Asn232Lys
XM_011535038.1:c.720T>A	XP_011533340.1:p.Asn240Lys
XM_011535039.1:c.687T>A	XP_011533341.1:p.Asn229Lys
XM_005266338.2:c.696T>A	XP_005266395.1:p.Asn232Lys
XM_011535039.2:c.687T>A	XP_011533341.1:p.Asn229Lys
XM_017020539.1:c.687T>A	XP_016876028.1:p.Asn229Lys
XM_024449337.1:c.696T>A	XP_024305105.1:p.Asn232Lys
NM_014363.6:c.696T>A MANE Select	NP_055178.3:p.Asn232Lys
NM_001278055.2:c.255T>A	NP_001264984.1:p.Asn85Lys