Canonical Allele Identifier: CA387518884
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336368T>A , CM000675.2:g.23336368T>A GRCh38
NC_000013.10:g.23910507T>A , CM000675.1:g.23910507T>A GRCh37
NC_000013.9:g.22808507T>A NCBI36
NG_012342.1:g.102335A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17417A>T ENSP00000508399.1:n.2185+17417A>T
ENST00000682944.1:c.7535A>T ENSP00000507173.1:p.His2512Leu
ENST00000683210.1:c.2185+17417A>T ENSP00000506739.1:n.2185+17417A>T
ENST00000683270.1:c.6445+1054A>T ENSP00000507624.1:n.6445+1054A>T
ENST00000683367.1:c.2177-6884A>T ENSP00000507780.1:n.2177-6884A>T
ENST00000683489.1:c.2291+5217A>T ENSP00000508403.1:n.2291+5217A>T
ENST00000683680.1:c.2318+5217A>T ENSP00000507223.1:n.2318+5217A>T
ENST00000684163.1:c.2204-6884A>T ENSP00000508262.1:n.2204-6884A>T
ENST00000684196.1:n.4543-6884A>T
ENST00000684325.1:c.2186-14694A>T ENSP00000508121.1:n.2186-14694A>T
ENST00000684385.1:c.2221-6884A>T ENSP00000507855.1:n.2221-6884A>T
ENST00000684497.1:c.2186-13724A>T ENSP00000507057.1:n.2186-13724A>T
ENST00000382292.9:c.7508A>T MANE Select ENSP00000371729.3:p.His2503Leu
ENST00000423156.2:c.2186-6884A>T ENSP00000390925.2:n.2186-6884A>T
ENST00000455470.6:c.2431+5077A>T ENSP00000406565.2:n.2431+5077A>T
ENST00000382292.7:c.7508A>T ENSP00000371729.3:p.His2503Leu
ENST00000382298.7:c.7508A>T ENSP00000371735.3:p.His2503Leu
ENST00000402364.1:c.5258A>T ENSP00000385844.1:p.His1753Leu
ENST00000423156.1:c.1058-6884A>T ENSP00000390925.1:n.1058-6884A>T
ENST00000455470.5:c.2129+5077A>T
NM_001278055.1:c.7067A>T NP_001264984.1:p.His2356Leu
NM_014363.5:c.7508A>T NP_055178.3:p.His2503Leu
XM_005266338.1:c.7535A>T XP_005266395.1:p.His2512Leu
XM_011535038.1:c.7559A>T XP_011533340.1:p.His2520Leu
XM_011535039.1:c.7526A>T XP_011533341.1:p.His2509Leu
XM_005266338.2:c.7535A>T XP_005266395.1:p.His2512Leu
XM_011535039.2:c.7526A>T XP_011533341.1:p.His2509Leu
XM_017020539.1:c.7499A>T XP_016876028.1:p.His2500Leu
XM_024449337.1:c.7535A>T XP_024305105.1:p.His2512Leu
NM_014363.6:c.7508A>T MANE Select NP_055178.3:p.His2503Leu
NM_001278055.2:c.7067A>T NP_001264984.1:p.His2356Leu