Canonical Allele Identifier: CA387506489
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330959A>G , CM000675.2:g.23330959A>G GRCh38
NC_000013.10:g.23905098A>G , CM000675.1:g.23905098A>G GRCh37
NC_000013.9:g.22803098A>G NCBI36
NG_012342.1:g.107744T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.12917T>C MANE Select ENSP00000371729.3:p.Ile4306Thr
ENST00000423156.2:c.2186-1475T>C ENSP00000390925.2:p.=
ENST00000455470.6:c.2432-1475T>C ENSP00000406565.2:p.=
ENST00000382292.7:c.12917T>C ENSP00000371729.3:p.Ile4306Thr
ENST00000382298.7:c.12917T>C ENSP00000371735.3:p.Ile4306Thr
ENST00000402364.1:c.10667T>C ENSP00000385844.1:p.Ile3556Thr
ENST00000423156.1:n.1058-1475T>C ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-1475T>C
NM_001278055.1:c.12476T>C NP_001264984.1:p.Ile4159Thr
NM_014363.5:c.12917T>C NP_055178.3:p.Ile4306Thr
XM_005266338.1:c.12944T>C XP_005266395.1:p.Ile4315Thr
XM_011535038.1:c.12968T>C XP_011533340.1:p.Ile4323Thr
XM_011535039.1:c.12935T>C XP_011533341.1:p.Ile4312Thr
XM_005266338.2:c.12944T>C XP_005266395.1:p.Ile4315Thr
XM_011535039.2:c.12935T>C XP_011533341.1:p.Ile4312Thr
XM_017020539.1:c.12908T>C XP_016876028.1:p.Ile4303Thr
XM_024449337.1:c.12944T>C XP_024305105.1:p.Ile4315Thr
NM_014363.6:c.12917T>C MANE Select NP_055178.3:p.Ile4306Thr
NM_001278055.2:c.12476T>C NP_001264984.1:p.Ile4159Thr