Canonical Allele Identifier: CA483160724

Gene: SACS

Linked Data

• ClinVar Variation Id: 1560137
• ClinVar RCV Id: RCV002195440
• dbSNP Id: rs2137598118
• gnomAD v4: 13-23336178-A-G
• MyVariant Identifiers: chr13:g.23910317A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336178A>G , CM000675.2:g.23336178A>G	GRCh38
NC_000013.10:g.23910317A>G , CM000675.1:g.23910317A>G	GRCh37
NC_000013.9:g.22808317A>G	NCBI36
NG_012342.1:g.102525T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17607T>C	ENSP00000508399.1:n.2185+17607T>C
ENST00000682944.1:c.7725T>C	ENSP00000507173.1:p.Asp2575=
ENST00000683210.1:c.2185+17607T>C	ENSP00000506739.1:n.2185+17607T>C
ENST00000683270.1:c.6445+1244T>C	ENSP00000507624.1:n.6445+1244T>C
ENST00000683367.1:c.2177-6694T>C	ENSP00000507780.1:n.2177-6694T>C
ENST00000683489.1:c.2291+5407T>C	ENSP00000508403.1:n.2291+5407T>C
ENST00000683680.1:c.2318+5407T>C	ENSP00000507223.1:n.2318+5407T>C
ENST00000684163.1:c.2204-6694T>C	ENSP00000508262.1:n.2204-6694T>C
ENST00000684196.1:n.4543-6694T>C
ENST00000684325.1:c.2186-14504T>C	ENSP00000508121.1:n.2186-14504T>C
ENST00000684385.1:c.2221-6694T>C	ENSP00000507855.1:n.2221-6694T>C
ENST00000684497.1:c.2186-13534T>C	ENSP00000507057.1:n.2186-13534T>C
ENST00000382292.9:c.7698T>C MANE Select	ENSP00000371729.3:p.Asp2566=
ENST00000423156.2:c.2186-6694T>C	ENSP00000390925.2:n.2186-6694T>C
ENST00000455470.6:c.2431+5267T>C	ENSP00000406565.2:n.2431+5267T>C
ENST00000382292.7:c.7698T>C	ENSP00000371729.3:p.Asp2566=
ENST00000382298.7:c.7698T>C	ENSP00000371735.3:p.Asp2566=
ENST00000402364.1:c.5448T>C	ENSP00000385844.1:p.Asp1816=
ENST00000423156.1:c.1058-6694T>C	ENSP00000390925.1:n.1058-6694T>C
ENST00000455470.5:c.2129+5267T>C
NM_001278055.1:c.7257T>C	NP_001264984.1:p.Asp2419=
NM_014363.5:c.7698T>C	NP_055178.3:p.Asp2566=
XM_005266338.1:c.7725T>C	XP_005266395.1:p.Asp2575=
XM_011535038.1:c.7749T>C	XP_011533340.1:p.Asp2583=
XM_011535039.1:c.7716T>C	XP_011533341.1:p.Asp2572=
XM_005266338.2:c.7725T>C	XP_005266395.1:p.Asp2575=
XM_011535039.2:c.7716T>C	XP_011533341.1:p.Asp2572=
XM_017020539.1:c.7689T>C	XP_016876028.1:p.Asp2563=
XM_024449337.1:c.7725T>C	XP_024305105.1:p.Asp2575=
NM_014363.6:c.7698T>C MANE Select	NP_055178.3:p.Asp2566=
NM_001278055.2:c.7257T>C	NP_001264984.1:p.Asp2419=