Canonical Allele Identifier: CA387539096

Gene: SACS

Linked Data

• dbSNP Id: rs1461004647
• gnomAD v3: 13-23341469-T-A
• gnomAD v4: 13-23341469-T-A
• MyVariant Identifiers: chr13:g.23915608T>A (hg19) ; chr13:g.23341469T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341469T>A , CM000675.2:g.23341469T>A	GRCh38
NC_000013.10:g.23915608T>A , CM000675.1:g.23915608T>A	GRCh37
NC_000013.9:g.22813608T>A	NCBI36
NG_012342.1:g.97234A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12316A>T	ENSP00000508399.1:n.2185+12316A>T
ENST00000682944.1:c.2434A>T	ENSP00000507173.1:p.Ile812Phe
ENST00000683210.1:c.2185+12316A>T	ENSP00000506739.1:n.2185+12316A>T
ENST00000683270.1:c.2398A>T	ENSP00000507624.1:p.Ile800Phe
ENST00000683367.1:c.2177-11985A>T	ENSP00000507780.1:n.2177-11985A>T
ENST00000683489.1:c.2291+116A>T	ENSP00000508403.1:n.2291+116A>T
ENST00000683680.1:c.2318+116A>T	ENSP00000507223.1:n.2318+116A>T
ENST00000684163.1:c.2203+5342A>T	ENSP00000508262.1:n.2203+5342A>T
ENST00000684196.1:n.4543-11985A>T
ENST00000684325.1:c.2185+12316A>T	ENSP00000508121.1:n.2185+12316A>T
ENST00000684385.1:c.2220+5342A>T	ENSP00000507855.1:n.2220+5342A>T
ENST00000684497.1:c.2185+12316A>T	ENSP00000507057.1:n.2185+12316A>T
ENST00000382292.9:c.2407A>T MANE Select	ENSP00000371729.3:p.Ile803Phe
ENST00000423156.2:c.2186-11985A>T	ENSP00000390925.2:n.2186-11985A>T
ENST00000455470.6:c.2407A>T	ENSP00000406565.2:p.Ile803Phe
ENST00000382292.7:c.2407A>T	ENSP00000371729.3:p.Ile803Phe
ENST00000382298.7:c.2407A>T	ENSP00000371735.3:p.Ile803Phe
ENST00000402364.1:c.157A>T	ENSP00000385844.1:p.Ile53Phe
ENST00000423156.1:c.1058-11985A>T	ENSP00000390925.1:n.1058-11985A>T
ENST00000455470.5:c.2105A>T
NM_001278055.1:c.1966A>T	NP_001264984.1:p.Ile656Phe
NM_014363.5:c.2407A>T	NP_055178.3:p.Ile803Phe
XM_005266338.1:c.2434A>T	XP_005266395.1:p.Ile812Phe
XM_011535038.1:c.2458A>T	XP_011533340.1:p.Ile820Phe
XM_011535039.1:c.2425A>T	XP_011533341.1:p.Ile809Phe
XM_005266338.2:c.2434A>T	XP_005266395.1:p.Ile812Phe
XM_011535039.2:c.2425A>T	XP_011533341.1:p.Ile809Phe
XM_017020539.1:c.2398A>T	XP_016876028.1:p.Ile800Phe
XM_024449337.1:c.2434A>T	XP_024305105.1:p.Ile812Phe
NM_014363.6:c.2407A>T MANE Select	NP_055178.3:p.Ile803Phe
NM_001278055.2:c.1966A>T	NP_001264984.1:p.Ile656Phe