Canonical Allele Identifier: CA246662882
Community Standard Title: NM_014363.6(SACS):c.2814T>C (p.Ile938=)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341062A>G , CM000675.2:g.23341062A>G GRCh38
NC_000013.10:g.23915201A>G , CM000675.1:g.23915201A>G GRCh37
NC_000013.9:g.22813201A>G NCBI36
NG_012342.1:g.97641T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.2814T>C MANE Select NP_055178.3:p.Ile938=
ENST00000382292.9:c.2814T>C MANE Select ENSP00000371729.3:p.Ile938=
NM_001278055.1:c.2373T>C NP_001264984.1:p.Ile791=
NM_001278055.2:c.2373T>C NP_001264984.1:p.Ile791=
NM_014363.5:c.2814T>C NP_055178.3:p.Ile938=
ENST00000382292.7:c.2814T>C ENSP00000371729.3:p.Ile938=
ENST00000382298.7:c.2814T>C ENSP00000371735.3:p.Ile938=
ENST00000402364.1:c.564T>C ENSP00000385844.1:p.Ile188=
ENST00000423156.1:c.1058-11578T>C ENSP00000390925.1:n.1058-11578T>C
ENST00000423156.2:c.2186-11578T>C ENSP00000390925.2:n.2186-11578T>C
ENST00000455470.5:c.2129+383T>C
ENST00000455470.6:c.2431+383T>C ENSP00000406565.2:n.2431+383T>C
ENST00000682775.1:c.2185+12723T>C ENSP00000508399.1:n.2185+12723T>C
ENST00000682944.1:c.2841T>C ENSP00000507173.1:p.Ile947=
ENST00000683210.1:c.2185+12723T>C ENSP00000506739.1:n.2185+12723T>C
ENST00000683270.1:c.2805T>C ENSP00000507624.1:p.Ile935=
ENST00000683367.1:c.2177-11578T>C ENSP00000507780.1:n.2177-11578T>C
ENST00000683489.1:c.2291+523T>C ENSP00000508403.1:n.2291+523T>C
ENST00000683680.1:c.2318+523T>C ENSP00000507223.1:n.2318+523T>C
ENST00000684163.1:c.2203+5749T>C ENSP00000508262.1:n.2203+5749T>C
ENST00000684196.1:n.4543-11578T>C
ENST00000684325.1:c.2185+12723T>C ENSP00000508121.1:n.2185+12723T>C
ENST00000684385.1:c.2220+5749T>C ENSP00000507855.1:n.2220+5749T>C
ENST00000684497.1:c.2185+12723T>C ENSP00000507057.1:n.2185+12723T>C
XM_005266338.1:c.2841T>C XP_005266395.1:p.Ile947=
XM_005266338.2:c.2841T>C XP_005266395.1:p.Ile947=
XM_011535038.1:c.2865T>C XP_011533340.1:p.Ile955=
XM_011535039.1:c.2832T>C XP_011533341.1:p.Ile944=
XM_011535039.2:c.2832T>C XP_011533341.1:p.Ile944=
XM_017020539.1:c.2805T>C XP_016876028.1:p.Ile935=
XM_024449337.1:c.2841T>C XP_024305105.1:p.Ile947=