Canonical Allele Identifier: CA2078640677
Community Standard Title: NM_014363.6(SACS):c.4298G= (p.Trp1433=)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339578C= , CM000675.2:g.23339578C= GRCh38
NC_000013.10:g.23913717C= , CM000675.1:g.23913717C= GRCh37
NC_000013.9:g.22811717C= NCBI36
NG_012342.1:g.99125G=

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.4298G= MANE Select NP_055178.3:p.Trp1433=
ENST00000382292.9:c.4298G= MANE Select ENSP00000371729.3:p.Trp1433=
NM_001278055.1:c.3857G= NP_001264984.1:p.Trp1286=
NM_001278055.2:c.3857G= NP_001264984.1:p.Trp1286=
NM_014363.5:c.4298G= NP_055178.3:p.Trp1433=
ENST00000382292.7:c.4298G= ENSP00000371729.3:p.Trp1433=
ENST00000382298.7:c.4298G= ENSP00000371735.3:p.Trp1433=
ENST00000402364.1:c.2048G= ENSP00000385844.1:p.Trp683=
ENST00000423156.1:c.1058-10094G= ENSP00000390925.1:n.1058-10094G=
ENST00000423156.2:c.2186-10094G= ENSP00000390925.2:n.2186-10094G=
ENST00000455470.5:c.2129+1867G=
ENST00000455470.6:c.2431+1867G= ENSP00000406565.2:n.2431+1867G=
ENST00000682775.1:c.2185+14207G= ENSP00000508399.1:n.2185+14207G=
ENST00000682944.1:c.4325G= ENSP00000507173.1:p.Trp1442=
ENST00000683210.1:c.2185+14207G= ENSP00000506739.1:n.2185+14207G=
ENST00000683270.1:c.4289G= ENSP00000507624.1:p.Trp1430=
ENST00000683367.1:c.2177-10094G= ENSP00000507780.1:n.2177-10094G=
ENST00000683489.1:c.2291+2007G= ENSP00000508403.1:n.2291+2007G=
ENST00000683680.1:c.2318+2007G= ENSP00000507223.1:n.2318+2007G=
ENST00000684163.1:c.2203+7233G= ENSP00000508262.1:n.2203+7233G=
ENST00000684196.1:n.4543-10094G=
ENST00000684325.1:c.2185+14207G= ENSP00000508121.1:n.2185+14207G=
ENST00000684385.1:c.2220+7233G= ENSP00000507855.1:n.2220+7233G=
ENST00000684497.1:c.2185+14207G= ENSP00000507057.1:n.2185+14207G=
XM_005266338.1:c.4325G= XP_005266395.1:p.Trp1442=
XM_005266338.2:c.4325G= XP_005266395.1:p.Trp1442=
XM_011535038.1:c.4349G= XP_011533340.1:p.Trp1450=
XM_011535039.1:c.4316G= XP_011533341.1:p.Trp1439=
XM_011535039.2:c.4316G= XP_011533341.1:p.Trp1439=
XM_017020539.1:c.4289G= XP_016876028.1:p.Trp1430=
XM_024449337.1:c.4325G= XP_024305105.1:p.Trp1442=