Canonical Allele Identifier: CA483161609

Gene: SACS

Linked Data

• ClinVar Variation Id: 1649051
• ClinVar RCV Id: RCV002163106
• dbSNP Id: rs1330112578
• gnomAD v2: 13-23910890-A-G
• gnomAD v4: 13-23336751-A-G
• MyVariant Identifiers: chr13:g.23910890A>G (hg19) ; chr13:g.23336751A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336751A>G , CM000675.2:g.23336751A>G	GRCh38
NC_000013.10:g.23910890A>G , CM000675.1:g.23910890A>G	GRCh37
NC_000013.9:g.22808890A>G	NCBI36
NG_012342.1:g.101952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17034T>C	ENSP00000508399.1:n.2185+17034T>C
ENST00000682944.1:c.7152T>C	ENSP00000507173.1:p.Pro2384=
ENST00000683210.1:c.2185+17034T>C	ENSP00000506739.1:n.2185+17034T>C
ENST00000683270.1:c.6445+671T>C	ENSP00000507624.1:n.6445+671T>C
ENST00000683367.1:c.2177-7267T>C	ENSP00000507780.1:n.2177-7267T>C
ENST00000683489.1:c.2291+4834T>C	ENSP00000508403.1:n.2291+4834T>C
ENST00000683680.1:c.2318+4834T>C	ENSP00000507223.1:n.2318+4834T>C
ENST00000684163.1:c.2204-7267T>C	ENSP00000508262.1:n.2204-7267T>C
ENST00000684196.1:n.4543-7267T>C
ENST00000684325.1:c.2186-15077T>C	ENSP00000508121.1:n.2186-15077T>C
ENST00000684385.1:c.2221-7267T>C	ENSP00000507855.1:n.2221-7267T>C
ENST00000684497.1:c.2186-14107T>C	ENSP00000507057.1:n.2186-14107T>C
ENST00000382292.9:c.7125T>C MANE Select	ENSP00000371729.3:p.Pro2375=
ENST00000423156.2:c.2186-7267T>C	ENSP00000390925.2:n.2186-7267T>C
ENST00000455470.6:c.2431+4694T>C	ENSP00000406565.2:n.2431+4694T>C
ENST00000382292.7:c.7125T>C	ENSP00000371729.3:p.Pro2375=
ENST00000382298.7:c.7125T>C	ENSP00000371735.3:p.Pro2375=
ENST00000402364.1:c.4875T>C	ENSP00000385844.1:p.Pro1625=
ENST00000423156.1:c.1058-7267T>C	ENSP00000390925.1:n.1058-7267T>C
ENST00000455470.5:c.2129+4694T>C
NM_001278055.1:c.6684T>C	NP_001264984.1:p.Pro2228=
NM_014363.5:c.7125T>C	NP_055178.3:p.Pro2375=
XM_005266338.1:c.7152T>C	XP_005266395.1:p.Pro2384=
XM_011535038.1:c.7176T>C	XP_011533340.1:p.Pro2392=
XM_011535039.1:c.7143T>C	XP_011533341.1:p.Pro2381=
XM_005266338.2:c.7152T>C	XP_005266395.1:p.Pro2384=
XM_011535039.2:c.7143T>C	XP_011533341.1:p.Pro2381=
XM_017020539.1:c.7116T>C	XP_016876028.1:p.Pro2372=
XM_024449337.1:c.7152T>C	XP_024305105.1:p.Pro2384=
NM_014363.6:c.7125T>C MANE Select	NP_055178.3:p.Pro2375=
NM_001278055.2:c.6684T>C	NP_001264984.1:p.Pro2228=