Canonical Allele Identifier: CA387554535
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23375178T>A , CM000675.2:g.23375178T>A GRCh38
NC_000013.10:g.23949317T>A , CM000675.1:g.23949317T>A GRCh37
NC_000013.9:g.22847317T>A NCBI36
NG_012342.1:g.63525A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682244.1:n.685A>T
ENST00000682547.1:c.149A>T ENSP00000507735.1:p.Tyr50Phe
ENST00000682775.1:c.112A>T ENSP00000508399.1:p.Ile38Phe
ENST00000682944.1:c.112A>T ENSP00000507173.1:p.Ile38Phe
ENST00000683154.1:n.250A>T
ENST00000683210.1:c.112A>T ENSP00000506739.1:p.Ile38Phe
ENST00000683270.1:c.103A>T ENSP00000507624.1:p.Ile35Phe
ENST00000683367.1:c.103A>T ENSP00000507780.1:p.Ile35Phe
ENST00000683489.1:c.112A>T ENSP00000508403.1:p.Ile38Phe
ENST00000683680.1:c.112A>T ENSP00000507223.1:p.Ile38Phe
ENST00000684053.1:n.229A>T
ENST00000684163.1:c.103A>T ENSP00000508262.1:p.Ile35Phe
ENST00000684325.1:c.112A>T ENSP00000508121.1:p.Ile38Phe
ENST00000684385.1:c.112A>T ENSP00000507855.1:p.Ile38Phe
ENST00000684497.1:c.112A>T ENSP00000507057.1:p.Ile38Phe
ENST00000382292.9:c.112A>T MANE Select ENSP00000371729.3:p.Ile38Phe
ENST00000423156.2:c.112A>T ENSP00000390925.2:p.Ile38Phe
ENST00000455470.6:c.112A>T ENSP00000406565.2:p.Ile38Phe
ENST00000382292.7:c.112A>T ENSP00000371729.3:p.Ile38Phe
ENST00000382298.7:c.112A>T ENSP00000371735.3:p.Ile38Phe
ENST00000402364.1:c.-2051A>T ENSP00000385844.1:n.-2051A>T
NM_001278055.1:c.-242A>T NP_001264984.1:n.-242A>T
NM_014363.5:c.112A>T NP_055178.3:p.Ile38Phe
XM_005266338.1:c.112A>T XP_005266395.1:p.Ile38Phe
XM_011535038.1:c.136A>T XP_011533340.1:p.Ile46Phe
XM_011535039.1:c.103A>T XP_011533341.1:p.Ile35Phe
XM_005266338.2:c.112A>T XP_005266395.1:p.Ile38Phe
XM_011535039.2:c.103A>T XP_011533341.1:p.Ile35Phe
XM_017020539.1:c.103A>T XP_016876028.1:p.Ile35Phe
XM_024449337.1:c.112A>T XP_024305105.1:p.Ile38Phe
NM_014363.6:c.112A>T MANE Select NP_055178.3:p.Ile38Phe
NM_001278055.2:c.-242A>T NP_001264984.1:n.-242A>T