Canonical Allele Identifier: CA246659017
Community Standard Title: NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338294C>T , CM000675.2:g.23338294C>T GRCh38
NC_000013.10:g.23912433C>T , CM000675.1:g.23912433C>T GRCh37
NC_000013.9:g.22810433C>T NCBI36
NG_012342.1:g.100409G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.5582G>A MANE Select NP_055178.3:p.Trp1861Ter
ENST00000382292.9:c.5582G>A MANE Select ENSP00000371729.3:p.Trp1861Ter
NM_001278055.1:c.5141G>A NP_001264984.1:p.Trp1714Ter
NM_001278055.2:c.5141G>A NP_001264984.1:p.Trp1714Ter
NM_014363.5:c.5582G>A NP_055178.3:p.Trp1861Ter
ENST00000382292.7:c.5582G>A ENSP00000371729.3:p.Trp1861Ter
ENST00000382298.7:c.5582G>A ENSP00000371735.3:p.Trp1861Ter
ENST00000402364.1:c.3332G>A ENSP00000385844.1:p.Trp1111Ter
ENST00000423156.1:c.1058-8810G>A ENSP00000390925.1:n.1058-8810G>A
ENST00000423156.2:c.2186-8810G>A ENSP00000390925.2:n.2186-8810G>A
ENST00000455470.5:c.2129+3151G>A
ENST00000455470.6:c.2431+3151G>A ENSP00000406565.2:n.2431+3151G>A
ENST00000682775.1:c.2185+15491G>A ENSP00000508399.1:n.2185+15491G>A
ENST00000682944.1:c.5609G>A ENSP00000507173.1:p.Trp1870Ter
ENST00000683210.1:c.2185+15491G>A ENSP00000506739.1:n.2185+15491G>A
ENST00000683270.1:c.5573G>A ENSP00000507624.1:p.Trp1858Ter
ENST00000683367.1:c.2177-8810G>A ENSP00000507780.1:n.2177-8810G>A
ENST00000683489.1:c.2291+3291G>A ENSP00000508403.1:n.2291+3291G>A
ENST00000683680.1:c.2318+3291G>A ENSP00000507223.1:n.2318+3291G>A
ENST00000684163.1:c.2203+8517G>A ENSP00000508262.1:n.2203+8517G>A
ENST00000684196.1:n.4543-8810G>A
ENST00000684325.1:c.2185+15491G>A ENSP00000508121.1:n.2185+15491G>A
ENST00000684385.1:c.2220+8517G>A ENSP00000507855.1:n.2220+8517G>A
ENST00000684497.1:c.2185+15491G>A ENSP00000507057.1:n.2185+15491G>A
XM_005266338.1:c.5609G>A XP_005266395.1:p.Trp1870Ter
XM_005266338.2:c.5609G>A XP_005266395.1:p.Trp1870Ter
XM_011535038.1:c.5633G>A XP_011533340.1:p.Trp1878Ter
XM_011535039.1:c.5600G>A XP_011533341.1:p.Trp1867Ter
XM_011535039.2:c.5600G>A XP_011533341.1:p.Trp1867Ter
XM_017020539.1:c.5573G>A XP_016876028.1:p.Trp1858Ter
XM_024449337.1:c.5609G>A XP_024305105.1:p.Trp1870Ter