Canonical Allele Identifier: CA387538536
Community Standard Title: NM_014363.6(SACS):c.2630T>A (p.Leu877Ter)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341246A>T , CM000675.2:g.23341246A>T GRCh38
NC_000013.10:g.23915385A>T , CM000675.1:g.23915385A>T GRCh37
NC_000013.9:g.22813385A>T NCBI36
NG_012342.1:g.97457T>A

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.2630T>A MANE Select NP_055178.3:p.Leu877Ter
ENST00000382292.9:c.2630T>A MANE Select ENSP00000371729.3:p.Leu877Ter
NM_001278055.1:c.2189T>A NP_001264984.1:p.Leu730Ter
NM_001278055.2:c.2189T>A NP_001264984.1:p.Leu730Ter
NM_014363.5:c.2630T>A NP_055178.3:p.Leu877Ter
ENST00000382292.7:c.2630T>A ENSP00000371729.3:p.Leu877Ter
ENST00000382298.7:c.2630T>A ENSP00000371735.3:p.Leu877Ter
ENST00000402364.1:c.380T>A ENSP00000385844.1:p.Leu127Ter
ENST00000423156.1:c.1058-11762T>A ENSP00000390925.1:n.1058-11762T>A
ENST00000423156.2:c.2186-11762T>A ENSP00000390925.2:n.2186-11762T>A
ENST00000455470.5:c.2129+199T>A
ENST00000455470.6:c.2431+199T>A ENSP00000406565.2:n.2431+199T>A
ENST00000682775.1:c.2185+12539T>A ENSP00000508399.1:n.2185+12539T>A
ENST00000682944.1:c.2657T>A ENSP00000507173.1:p.Leu886Ter
ENST00000683210.1:c.2185+12539T>A ENSP00000506739.1:n.2185+12539T>A
ENST00000683270.1:c.2621T>A ENSP00000507624.1:p.Leu874Ter
ENST00000683367.1:c.2177-11762T>A ENSP00000507780.1:n.2177-11762T>A
ENST00000683489.1:c.2291+339T>A ENSP00000508403.1:n.2291+339T>A
ENST00000683680.1:c.2318+339T>A ENSP00000507223.1:n.2318+339T>A
ENST00000684163.1:c.2203+5565T>A ENSP00000508262.1:n.2203+5565T>A
ENST00000684196.1:n.4543-11762T>A
ENST00000684325.1:c.2185+12539T>A ENSP00000508121.1:n.2185+12539T>A
ENST00000684385.1:c.2220+5565T>A ENSP00000507855.1:n.2220+5565T>A
ENST00000684497.1:c.2185+12539T>A ENSP00000507057.1:n.2185+12539T>A
XM_005266338.1:c.2657T>A XP_005266395.1:p.Leu886Ter
XM_005266338.2:c.2657T>A XP_005266395.1:p.Leu886Ter
XM_011535038.1:c.2681T>A XP_011533340.1:p.Leu894Ter
XM_011535039.1:c.2648T>A XP_011533341.1:p.Leu883Ter
XM_011535039.2:c.2648T>A XP_011533341.1:p.Leu883Ter
XM_017020539.1:c.2621T>A XP_016876028.1:p.Leu874Ter
XM_024449337.1:c.2657T>A XP_024305105.1:p.Leu886Ter