Canonical Allele Identifier: CA483162213

Gene: SACS

Linked Data

• ClinVar Variation Id: 700062
• ClinVar RCV Id: RCV000868090
• dbSNP Id: rs1195719474
• gnomAD v2: 13-23912675-T-A
• gnomAD v4: 13-23338536-T-A
• MyVariant Identifiers: chr13:g.23912675T>A (hg19) ; chr13:g.23338536T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338536T>A , CM000675.2:g.23338536T>A	GRCh38
NC_000013.10:g.23912675T>A , CM000675.1:g.23912675T>A	GRCh37
NC_000013.9:g.22810675T>A	NCBI36
NG_012342.1:g.100167A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15249A>T	ENSP00000508399.1:n.2185+15249A>T
ENST00000682944.1:c.5367A>T	ENSP00000507173.1:p.Pro1789=
ENST00000683210.1:c.2185+15249A>T	ENSP00000506739.1:n.2185+15249A>T
ENST00000683270.1:c.5331A>T	ENSP00000507624.1:p.Pro1777=
ENST00000683367.1:c.2177-9052A>T	ENSP00000507780.1:n.2177-9052A>T
ENST00000683489.1:c.2291+3049A>T	ENSP00000508403.1:n.2291+3049A>T
ENST00000683680.1:c.2318+3049A>T	ENSP00000507223.1:n.2318+3049A>T
ENST00000684163.1:c.2203+8275A>T	ENSP00000508262.1:n.2203+8275A>T
ENST00000684196.1:n.4543-9052A>T
ENST00000684325.1:c.2185+15249A>T	ENSP00000508121.1:n.2185+15249A>T
ENST00000684385.1:c.2220+8275A>T	ENSP00000507855.1:n.2220+8275A>T
ENST00000684497.1:c.2185+15249A>T	ENSP00000507057.1:n.2185+15249A>T
ENST00000382292.9:c.5340A>T MANE Select	ENSP00000371729.3:p.Pro1780=
ENST00000423156.2:c.2186-9052A>T	ENSP00000390925.2:n.2186-9052A>T
ENST00000455470.6:c.2431+2909A>T	ENSP00000406565.2:n.2431+2909A>T
ENST00000382292.7:c.5340A>T	ENSP00000371729.3:p.Pro1780=
ENST00000382298.7:c.5340A>T	ENSP00000371735.3:p.Pro1780=
ENST00000402364.1:c.3090A>T	ENSP00000385844.1:p.Pro1030=
ENST00000423156.1:c.1058-9052A>T	ENSP00000390925.1:n.1058-9052A>T
ENST00000455470.5:c.2129+2909A>T
NM_001278055.1:c.4899A>T	NP_001264984.1:p.Pro1633=
NM_014363.5:c.5340A>T	NP_055178.3:p.Pro1780=
XM_005266338.1:c.5367A>T	XP_005266395.1:p.Pro1789=
XM_011535038.1:c.5391A>T	XP_011533340.1:p.Pro1797=
XM_011535039.1:c.5358A>T	XP_011533341.1:p.Pro1786=
XM_005266338.2:c.5367A>T	XP_005266395.1:p.Pro1789=
XM_011535039.2:c.5358A>T	XP_011533341.1:p.Pro1786=
XM_017020539.1:c.5331A>T	XP_016876028.1:p.Pro1777=
XM_024449337.1:c.5367A>T	XP_024305105.1:p.Pro1789=
NM_014363.6:c.5340A>T MANE Select	NP_055178.3:p.Pro1780=
NM_001278055.2:c.4899A>T	NP_001264984.1:p.Pro1633=