Canonical Allele Identifier: CA6910933
Community Standard Title: NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336570T>G , CM000675.2:g.23336570T>G GRCh38
NC_000013.10:g.23910709T>G , CM000675.1:g.23910709T>G GRCh37
NC_000013.9:g.22808709T>G NCBI36
NG_012342.1:g.102133A>C

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.7306A>C MANE Select NP_055178.3:p.Ile2436Leu
ENST00000382292.9:c.7306A>C MANE Select ENSP00000371729.3:p.Ile2436Leu
NM_001278055.1:c.6865A>C NP_001264984.1:p.Ile2289Leu
NM_001278055.2:c.6865A>C NP_001264984.1:p.Ile2289Leu
NM_014363.5:c.7306A>C NP_055178.3:p.Ile2436Leu
ENST00000382292.7:c.7306A>C ENSP00000371729.3:p.Ile2436Leu
ENST00000382298.7:c.7306A>C ENSP00000371735.3:p.Ile2436Leu
ENST00000402364.1:c.5056A>C ENSP00000385844.1:p.Ile1686Leu
ENST00000423156.1:c.1058-7086A>C ENSP00000390925.1:n.1058-7086A>C
ENST00000423156.2:c.2186-7086A>C ENSP00000390925.2:n.2186-7086A>C
ENST00000455470.5:c.2129+4875A>C
ENST00000455470.6:c.2431+4875A>C ENSP00000406565.2:n.2431+4875A>C
ENST00000682775.1:c.2185+17215A>C ENSP00000508399.1:n.2185+17215A>C
ENST00000682944.1:c.7333A>C ENSP00000507173.1:p.Ile2445Leu
ENST00000683210.1:c.2185+17215A>C ENSP00000506739.1:n.2185+17215A>C
ENST00000683270.1:c.6445+852A>C ENSP00000507624.1:n.6445+852A>C
ENST00000683367.1:c.2177-7086A>C ENSP00000507780.1:n.2177-7086A>C
ENST00000683489.1:c.2291+5015A>C ENSP00000508403.1:n.2291+5015A>C
ENST00000683680.1:c.2318+5015A>C ENSP00000507223.1:n.2318+5015A>C
ENST00000684163.1:c.2204-7086A>C ENSP00000508262.1:n.2204-7086A>C
ENST00000684196.1:n.4543-7086A>C
ENST00000684325.1:c.2186-14896A>C ENSP00000508121.1:n.2186-14896A>C
ENST00000684385.1:c.2221-7086A>C ENSP00000507855.1:n.2221-7086A>C
ENST00000684497.1:c.2186-13926A>C ENSP00000507057.1:n.2186-13926A>C
XM_005266338.1:c.7333A>C XP_005266395.1:p.Ile2445Leu
XM_005266338.2:c.7333A>C XP_005266395.1:p.Ile2445Leu
XM_011535038.1:c.7357A>C XP_011533340.1:p.Ile2453Leu
XM_011535039.1:c.7324A>C XP_011533341.1:p.Ile2442Leu
XM_011535039.2:c.7324A>C XP_011533341.1:p.Ile2442Leu
XM_017020539.1:c.7297A>C XP_016876028.1:p.Ile2433Leu
XM_024449337.1:c.7333A>C XP_024305105.1:p.Ile2445Leu