Canonical Allele Identifier: CA6910964

Gene: SACS

Linked Data

• ClinVar Variation Id: 458273
• ClinVar RCV Id: RCV000676361 ; RCV001079334 ; RCV001115058 ; RCV001287912
• dbSNP Id: rs17078608
• ExAC: 13:23910866 G / A
• gnomAD v2: 13-23910866-G-A
• gnomAD v3: 13-23336727-G-A
• gnomAD v4: 13-23336727-G-A
• COSMIC: COSM1365907 ; COSM1365908
• MyVariant Identifiers: chr13:g.23910866G>A (hg19) ; chr13:g.23336727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336727G>A , CM000675.2:g.23336727G>A	GRCh38
NC_000013.10:g.23910866G>A , CM000675.1:g.23910866G>A	GRCh37
NC_000013.9:g.22808866G>A	NCBI36
NG_012342.1:g.101976C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17058C>T	ENSP00000508399.1:n.2185+17058C>T
ENST00000682944.1:c.7176C>T	ENSP00000507173.1:p.Arg2392=
ENST00000683210.1:c.2185+17058C>T	ENSP00000506739.1:n.2185+17058C>T
ENST00000683270.1:c.6445+695C>T	ENSP00000507624.1:n.6445+695C>T
ENST00000683367.1:c.2177-7243C>T	ENSP00000507780.1:n.2177-7243C>T
ENST00000683489.1:c.2291+4858C>T	ENSP00000508403.1:n.2291+4858C>T
ENST00000683680.1:c.2318+4858C>T	ENSP00000507223.1:n.2318+4858C>T
ENST00000684163.1:c.2204-7243C>T	ENSP00000508262.1:n.2204-7243C>T
ENST00000684196.1:n.4543-7243C>T
ENST00000684325.1:c.2186-15053C>T	ENSP00000508121.1:n.2186-15053C>T
ENST00000684385.1:c.2221-7243C>T	ENSP00000507855.1:n.2221-7243C>T
ENST00000684497.1:c.2186-14083C>T	ENSP00000507057.1:n.2186-14083C>T
ENST00000382292.9:c.7149C>T MANE Select	ENSP00000371729.3:p.Arg2383=
ENST00000423156.2:c.2186-7243C>T	ENSP00000390925.2:n.2186-7243C>T
ENST00000455470.6:c.2431+4718C>T	ENSP00000406565.2:n.2431+4718C>T
ENST00000382292.7:c.7149C>T	ENSP00000371729.3:p.Arg2383=
ENST00000382298.7:c.7149C>T	ENSP00000371735.3:p.Arg2383=
ENST00000402364.1:c.4899C>T	ENSP00000385844.1:p.Arg1633=
ENST00000423156.1:c.1058-7243C>T	ENSP00000390925.1:n.1058-7243C>T
ENST00000455470.5:c.2129+4718C>T
NM_001278055.1:c.6708C>T	NP_001264984.1:p.Arg2236=
NM_014363.5:c.7149C>T	NP_055178.3:p.Arg2383=
XM_005266338.1:c.7176C>T	XP_005266395.1:p.Arg2392=
XM_011535038.1:c.7200C>T	XP_011533340.1:p.Arg2400=
XM_011535039.1:c.7167C>T	XP_011533341.1:p.Arg2389=
XM_005266338.2:c.7176C>T	XP_005266395.1:p.Arg2392=
XM_011535039.2:c.7167C>T	XP_011533341.1:p.Arg2389=
XM_017020539.1:c.7140C>T	XP_016876028.1:p.Arg2380=
XM_024449337.1:c.7176C>T	XP_024305105.1:p.Arg2392=
NM_014363.6:c.7149C>T MANE Select	NP_055178.3:p.Arg2383=
NM_001278055.2:c.6708C>T	NP_001264984.1:p.Arg2236=