Canonical Allele Identifier: CA6910643
Community Standard Title: NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334625A>G , CM000675.2:g.23334625A>G GRCh38
NC_000013.10:g.23908764A>G , CM000675.1:g.23908764A>G GRCh37
NC_000013.9:g.22806764A>G NCBI36
NG_012342.1:g.104078T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.9251T>C MANE Select NP_055178.3:p.Ile3084Thr
ENST00000382292.9:c.9251T>C MANE Select ENSP00000371729.3:p.Ile3084Thr
NM_001278055.1:c.8810T>C NP_001264984.1:p.Ile2937Thr
NM_001278055.2:c.8810T>C NP_001264984.1:p.Ile2937Thr
NM_014363.5:c.9251T>C NP_055178.3:p.Ile3084Thr
ENST00000382292.7:c.9251T>C ENSP00000371729.3:p.Ile3084Thr
ENST00000382298.7:c.9251T>C ENSP00000371735.3:p.Ile3084Thr
ENST00000402364.1:c.7001T>C ENSP00000385844.1:p.Ile2334Thr
ENST00000423156.1:c.1058-5141T>C ENSP00000390925.1:n.1058-5141T>C
ENST00000423156.2:c.2186-5141T>C ENSP00000390925.2:n.2186-5141T>C
ENST00000455470.5:c.2130-5141T>C
ENST00000455470.6:c.2432-5141T>C ENSP00000406565.2:n.2432-5141T>C
ENST00000682775.1:c.2185+19160T>C ENSP00000508399.1:n.2185+19160T>C
ENST00000682944.1:c.9278T>C ENSP00000507173.1:p.Ile3093Thr
ENST00000683210.1:c.2185+19160T>C ENSP00000506739.1:n.2185+19160T>C
ENST00000683270.1:c.6445+2797T>C ENSP00000507624.1:n.6445+2797T>C
ENST00000683367.1:c.2177-5141T>C ENSP00000507780.1:n.2177-5141T>C
ENST00000683489.1:c.2292-4673T>C ENSP00000508403.1:n.2292-4673T>C
ENST00000683680.1:c.2319-4673T>C ENSP00000507223.1:n.2319-4673T>C
ENST00000684163.1:c.2204-5141T>C ENSP00000508262.1:n.2204-5141T>C
ENST00000684196.1:n.4543-5141T>C
ENST00000684325.1:c.2186-12951T>C ENSP00000508121.1:n.2186-12951T>C
ENST00000684385.1:c.2221-5141T>C ENSP00000507855.1:n.2221-5141T>C
ENST00000684497.1:c.2186-11981T>C ENSP00000507057.1:n.2186-11981T>C
XM_005266338.1:c.9278T>C XP_005266395.1:p.Ile3093Thr
XM_005266338.2:c.9278T>C XP_005266395.1:p.Ile3093Thr
XM_011535038.1:c.9302T>C XP_011533340.1:p.Ile3101Thr
XM_011535039.1:c.9269T>C XP_011533341.1:p.Ile3090Thr
XM_011535039.2:c.9269T>C XP_011533341.1:p.Ile3090Thr
XM_017020539.1:c.9242T>C XP_016876028.1:p.Ile3081Thr
XM_024449337.1:c.9278T>C XP_024305105.1:p.Ile3093Thr