Canonical Allele Identifier: CA6911876

Gene: SACS

Linked Data

• dbSNP Id: rs750871848
• ExAC: 13:23929100 G / T
• gnomAD v2: 13-23929100-G-T
• gnomAD v4: 13-23354961-G-T
• MyVariant Identifiers: chr13:g.23929100G>T (hg19) ; chr13:g.23354961G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354961G>T , CM000675.2:g.23354961G>T	GRCh38
NC_000013.10:g.23929100G>T , CM000675.1:g.23929100G>T	GRCh37
NC_000013.9:g.22827100G>T	NCBI36
NG_012342.1:g.83742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1651C>A	ENSP00000508399.1:p.Pro551Thr
ENST00000682944.1:c.1651C>A	ENSP00000507173.1:p.Pro551Thr
ENST00000683154.1:n.1789C>A
ENST00000683210.1:c.1651C>A	ENSP00000506739.1:p.Pro551Thr
ENST00000683270.1:c.1642C>A	ENSP00000507624.1:p.Pro548Thr
ENST00000683367.1:c.1642C>A	ENSP00000507780.1:p.Pro548Thr
ENST00000683489.1:c.1651C>A	ENSP00000508403.1:p.Pro551Thr
ENST00000683680.1:c.1651C>A	ENSP00000507223.1:p.Pro551Thr
ENST00000684163.1:c.1642C>A	ENSP00000508262.1:p.Pro548Thr
ENST00000684196.1:n.4008C>A
ENST00000684325.1:c.1651C>A	ENSP00000508121.1:p.Pro551Thr
ENST00000684385.1:c.1651C>A	ENSP00000507855.1:p.Pro551Thr
ENST00000684497.1:c.1651C>A	ENSP00000507057.1:p.Pro551Thr
ENST00000382292.9:c.1651C>A MANE Select	ENSP00000371729.3:p.Pro551Thr
ENST00000423156.2:c.1651C>A	ENSP00000390925.2:p.Pro551Thr
ENST00000455470.6:c.1651C>A	ENSP00000406565.2:p.Pro551Thr
ENST00000382292.7:c.1651C>A	ENSP00000371729.3:p.Pro551Thr
ENST00000382298.7:c.1651C>A	ENSP00000371735.3:p.Pro551Thr
ENST00000402364.1:c.-600C>A	ENSP00000385844.1:n.-600C>A
ENST00000423156.1:c.523C>A	ENSP00000390925.1:p.Pro175Thr
ENST00000455470.5:c.1349C>A
NM_001278055.1:c.1210C>A	NP_001264984.1:p.Pro404Thr
NM_014363.5:c.1651C>A	NP_055178.3:p.Pro551Thr
XM_005266338.1:c.1651C>A	XP_005266395.1:p.Pro551Thr
XM_011535038.1:c.1675C>A	XP_011533340.1:p.Pro559Thr
XM_011535039.1:c.1642C>A	XP_011533341.1:p.Pro548Thr
XM_005266338.2:c.1651C>A	XP_005266395.1:p.Pro551Thr
XM_011535039.2:c.1642C>A	XP_011533341.1:p.Pro548Thr
XM_017020539.1:c.1642C>A	XP_016876028.1:p.Pro548Thr
XM_024449337.1:c.1651C>A	XP_024305105.1:p.Pro551Thr
NM_014363.6:c.1651C>A MANE Select	NP_055178.3:p.Pro551Thr
NM_001278055.2:c.1210C>A	NP_001264984.1:p.Pro404Thr