Canonical Allele Identifier: CA2078624605
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336011T= , CM000675.2:g.23336011T= GRCh38
NC_000013.10:g.23910150T= , CM000675.1:g.23910150T= GRCh37
NC_000013.9:g.22808150T= NCBI36
NG_012342.1:g.102692A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17774A= ENSP00000508399.1:n.2185+17774A=
ENST00000682944.1:c.7892A= ENSP00000507173.1:p.Tyr2631=
ENST00000683210.1:c.2185+17774A= ENSP00000506739.1:n.2185+17774A=
ENST00000683270.1:c.6445+1411A= ENSP00000507624.1:n.6445+1411A=
ENST00000683367.1:c.2177-6527A= ENSP00000507780.1:n.2177-6527A=
ENST00000683489.1:c.2291+5574A= ENSP00000508403.1:n.2291+5574A=
ENST00000683680.1:c.2318+5574A= ENSP00000507223.1:n.2318+5574A=
ENST00000684163.1:c.2204-6527A= ENSP00000508262.1:n.2204-6527A=
ENST00000684196.1:n.4543-6527A=
ENST00000684325.1:c.2186-14337A= ENSP00000508121.1:n.2186-14337A=
ENST00000684385.1:c.2221-6527A= ENSP00000507855.1:n.2221-6527A=
ENST00000684497.1:c.2186-13367A= ENSP00000507057.1:n.2186-13367A=
ENST00000382292.9:c.7865A= MANE Select ENSP00000371729.3:p.Tyr2622=
ENST00000423156.2:c.2186-6527A= ENSP00000390925.2:n.2186-6527A=
ENST00000455470.6:c.2431+5434A= ENSP00000406565.2:n.2431+5434A=
ENST00000382292.7:c.7865A= ENSP00000371729.3:p.Tyr2622=
ENST00000382298.7:c.7865A= ENSP00000371735.3:p.Tyr2622=
ENST00000402364.1:c.5615A= ENSP00000385844.1:p.Tyr1872=
ENST00000423156.1:c.1058-6527A= ENSP00000390925.1:n.1058-6527A=
ENST00000455470.5:c.2129+5434A=
NM_001278055.1:c.7424A= NP_001264984.1:p.Tyr2475=
NM_014363.5:c.7865A= NP_055178.3:p.Tyr2622=
XM_005266338.1:c.7892A= XP_005266395.1:p.Tyr2631=
XM_011535038.1:c.7916A= XP_011533340.1:p.Tyr2639=
XM_011535039.1:c.7883A= XP_011533341.1:p.Tyr2628=
XM_005266338.2:c.7892A= XP_005266395.1:p.Tyr2631=
XM_011535039.2:c.7883A= XP_011533341.1:p.Tyr2628=
XM_017020539.1:c.7856A= XP_016876028.1:p.Tyr2619=
XM_024449337.1:c.7892A= XP_024305105.1:p.Tyr2631=
NM_014363.6:c.7865A= MANE Select NP_055178.3:p.Tyr2622=
NM_001278055.2:c.7424A= NP_001264984.1:p.Tyr2475=