Canonical Allele Identifier: CA387554566
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23375186T>G , CM000675.2:g.23375186T>G GRCh38
NC_000013.10:g.23949325T>G , CM000675.1:g.23949325T>G GRCh37
NC_000013.9:g.22847325T>G NCBI36
NG_012342.1:g.63517A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682244.1:n.677A>C
ENST00000682547.1:c.141A>C ENSP00000507735.1:p.Glu47Asp
ENST00000682775.1:c.104A>C ENSP00000508399.1:p.Lys35Thr
ENST00000682944.1:c.104A>C ENSP00000507173.1:p.Lys35Thr
ENST00000683154.1:n.242A>C
ENST00000683210.1:c.104A>C ENSP00000506739.1:p.Lys35Thr
ENST00000683270.1:c.95A>C ENSP00000507624.1:p.Lys32Thr
ENST00000683367.1:c.95A>C ENSP00000507780.1:p.Lys32Thr
ENST00000683489.1:c.104A>C ENSP00000508403.1:p.Lys35Thr
ENST00000683680.1:c.104A>C ENSP00000507223.1:p.Lys35Thr
ENST00000684053.1:n.221A>C
ENST00000684163.1:c.95A>C ENSP00000508262.1:p.Lys32Thr
ENST00000684325.1:c.104A>C ENSP00000508121.1:p.Lys35Thr
ENST00000684385.1:c.104A>C ENSP00000507855.1:p.Lys35Thr
ENST00000684497.1:c.104A>C ENSP00000507057.1:p.Lys35Thr
ENST00000382292.9:c.104A>C MANE Select ENSP00000371729.3:p.Lys35Thr
ENST00000423156.2:c.104A>C ENSP00000390925.2:p.Lys35Thr
ENST00000455470.6:c.104A>C ENSP00000406565.2:p.Lys35Thr
ENST00000382292.7:c.104A>C ENSP00000371729.3:p.Lys35Thr
ENST00000382298.7:c.104A>C ENSP00000371735.3:p.Lys35Thr
ENST00000402364.1:c.-2059A>C ENSP00000385844.1:n.-2059A>C
NM_001278055.1:c.-250A>C NP_001264984.1:n.-250A>C
NM_014363.5:c.104A>C NP_055178.3:p.Lys35Thr
XM_005266338.1:c.104A>C XP_005266395.1:p.Lys35Thr
XM_011535038.1:c.128A>C XP_011533340.1:p.Lys43Thr
XM_011535039.1:c.95A>C XP_011533341.1:p.Lys32Thr
XM_005266338.2:c.104A>C XP_005266395.1:p.Lys35Thr
XM_011535039.2:c.95A>C XP_011533341.1:p.Lys32Thr
XM_017020539.1:c.95A>C XP_016876028.1:p.Lys32Thr
XM_024449337.1:c.104A>C XP_024305105.1:p.Lys35Thr
NM_014363.6:c.104A>C MANE Select NP_055178.3:p.Lys35Thr
NM_001278055.2:c.-250A>C NP_001264984.1:n.-250A>C