Canonical Allele Identifier: CA6911950

Gene: SACS

Linked Data

• ClinVar Variation Id: 311565
• ClinVar RCV Id: RCV000333051 ; RCV001848107 ; RCV002472984 ; RCV002520871
• dbSNP Id: rs201569239
• ExAC: 13:23929532 G / T
• gnomAD v2: 13-23929532-G-T
• gnomAD v3: 13-23355393-G-T
• gnomAD v4: 13-23355393-G-T
• MyVariant Identifiers: chr13:g.23929532G>T (hg19) ; chr13:g.23355393G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355393G>T , CM000675.2:g.23355393G>T	GRCh38
NC_000013.10:g.23929532G>T , CM000675.1:g.23929532G>T	GRCh37
NC_000013.9:g.22827532G>T	NCBI36
NG_012342.1:g.83310C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1219C>A	ENSP00000508399.1:p.Leu407Ile
ENST00000682944.1:c.1219C>A	ENSP00000507173.1:p.Leu407Ile
ENST00000683154.1:n.1357C>A
ENST00000683210.1:c.1219C>A	ENSP00000506739.1:p.Leu407Ile
ENST00000683270.1:c.1210C>A	ENSP00000507624.1:p.Leu404Ile
ENST00000683367.1:c.1210C>A	ENSP00000507780.1:p.Leu404Ile
ENST00000683489.1:c.1219C>A	ENSP00000508403.1:p.Leu407Ile
ENST00000683680.1:c.1219C>A	ENSP00000507223.1:p.Leu407Ile
ENST00000684163.1:c.1210C>A	ENSP00000508262.1:p.Leu404Ile
ENST00000684196.1:n.3576C>A
ENST00000684325.1:c.1219C>A	ENSP00000508121.1:p.Leu407Ile
ENST00000684385.1:c.1219C>A	ENSP00000507855.1:p.Leu407Ile
ENST00000684497.1:c.1219C>A	ENSP00000507057.1:p.Leu407Ile
ENST00000382292.9:c.1219C>A MANE Select	ENSP00000371729.3:p.Leu407Ile
ENST00000423156.2:c.1219C>A	ENSP00000390925.2:p.Leu407Ile
ENST00000455470.6:c.1219C>A	ENSP00000406565.2:p.Leu407Ile
ENST00000382292.7:c.1219C>A	ENSP00000371729.3:p.Leu407Ile
ENST00000382298.7:c.1219C>A	ENSP00000371735.3:p.Leu407Ile
ENST00000402364.1:c.-1032C>A	ENSP00000385844.1:n.-1032C>A
ENST00000423156.1:c.91C>A	ENSP00000390925.1:p.Leu31Ile
ENST00000455470.5:c.917C>A
NM_001278055.1:c.778C>A	NP_001264984.1:p.Leu260Ile
NM_014363.5:c.1219C>A	NP_055178.3:p.Leu407Ile
XM_005266338.1:c.1219C>A	XP_005266395.1:p.Leu407Ile
XM_011535038.1:c.1243C>A	XP_011533340.1:p.Leu415Ile
XM_011535039.1:c.1210C>A	XP_011533341.1:p.Leu404Ile
XM_005266338.2:c.1219C>A	XP_005266395.1:p.Leu407Ile
XM_011535039.2:c.1210C>A	XP_011533341.1:p.Leu404Ile
XM_017020539.1:c.1210C>A	XP_016876028.1:p.Leu404Ile
XM_024449337.1:c.1219C>A	XP_024305105.1:p.Leu407Ile
NM_014363.6:c.1219C>A MANE Select	NP_055178.3:p.Leu407Ile
NM_001278055.2:c.778C>A	NP_001264984.1:p.Leu260Ile