Canonical Allele Identifier: CA6910302
Community Standard Title: NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332574T>C , CM000675.2:g.23332574T>C GRCh38
NC_000013.10:g.23906713T>C , CM000675.1:g.23906713T>C GRCh37
NC_000013.9:g.22804713T>C NCBI36
NG_012342.1:g.106129A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.11302A>G MANE Select NP_055178.3:p.Thr3768Ala
ENST00000382292.9:c.11302A>G MANE Select ENSP00000371729.3:p.Thr3768Ala
NM_001278055.1:c.10861A>G NP_001264984.1:p.Thr3621Ala
NM_001278055.2:c.10861A>G NP_001264984.1:p.Thr3621Ala
NM_014363.5:c.11302A>G NP_055178.3:p.Thr3768Ala
ENST00000382292.7:c.11302A>G ENSP00000371729.3:p.Thr3768Ala
ENST00000382298.7:c.11302A>G ENSP00000371735.3:p.Thr3768Ala
ENST00000402364.1:c.9052A>G ENSP00000385844.1:p.Thr3018Ala
ENST00000423156.1:c.1058-3090A>G ENSP00000390925.1:n.1058-3090A>G
ENST00000423156.2:c.2186-3090A>G ENSP00000390925.2:n.2186-3090A>G
ENST00000455470.5:c.2130-3090A>G
ENST00000455470.6:c.2432-3090A>G ENSP00000406565.2:n.2432-3090A>G
ENST00000682775.1:c.2186-20459A>G ENSP00000508399.1:n.2186-20459A>G
ENST00000682944.1:c.11329A>G ENSP00000507173.1:p.Thr3777Ala
ENST00000683210.1:c.2185+21211A>G ENSP00000506739.1:n.2185+21211A>G
ENST00000683270.1:c.6446-3090A>G ENSP00000507624.1:n.6446-3090A>G
ENST00000683367.1:c.2177-3090A>G ENSP00000507780.1:n.2177-3090A>G
ENST00000683489.1:c.2292-2622A>G ENSP00000508403.1:n.2292-2622A>G
ENST00000683680.1:c.2319-2622A>G ENSP00000507223.1:n.2319-2622A>G
ENST00000684163.1:c.2204-3090A>G ENSP00000508262.1:n.2204-3090A>G
ENST00000684196.1:n.4543-3090A>G
ENST00000684325.1:c.2186-10900A>G ENSP00000508121.1:n.2186-10900A>G
ENST00000684385.1:c.2221-3090A>G ENSP00000507855.1:n.2221-3090A>G
ENST00000684497.1:c.2186-9930A>G ENSP00000507057.1:n.2186-9930A>G
XM_005266338.1:c.11329A>G XP_005266395.1:p.Thr3777Ala
XM_005266338.2:c.11329A>G XP_005266395.1:p.Thr3777Ala
XM_011535038.1:c.11353A>G XP_011533340.1:p.Thr3785Ala
XM_011535039.1:c.11320A>G XP_011533341.1:p.Thr3774Ala
XM_011535039.2:c.11320A>G XP_011533341.1:p.Thr3774Ala
XM_017020539.1:c.11293A>G XP_016876028.1:p.Thr3765Ala
XM_024449337.1:c.11329A>G XP_024305105.1:p.Thr3777Ala