Canonical Allele Identifier: CA2078644732
Community Standard Title: NM_014363.6(SACS):c.2330C= (p.Ser777=)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341546G= , CM000675.2:g.23341546G= GRCh38
NC_000013.10:g.23915685G= , CM000675.1:g.23915685G= GRCh37
NC_000013.9:g.22813685G= NCBI36
NG_012342.1:g.97157C=

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.2330C= MANE Select NP_055178.3:p.Ser777=
ENST00000382292.9:c.2330C= MANE Select ENSP00000371729.3:p.Ser777=
NM_001278055.1:c.1889C= NP_001264984.1:p.Ser630=
NM_001278055.2:c.1889C= NP_001264984.1:p.Ser630=
NM_014363.5:c.2330C= NP_055178.3:p.Ser777=
ENST00000382292.7:c.2330C= ENSP00000371729.3:p.Ser777=
ENST00000382298.7:c.2330C= ENSP00000371735.3:p.Ser777=
ENST00000402364.1:c.80C= ENSP00000385844.1:p.Ser27=
ENST00000423156.1:c.1058-12062C= ENSP00000390925.1:n.1058-12062C=
ENST00000423156.2:c.2186-12062C= ENSP00000390925.2:n.2186-12062C=
ENST00000455470.5:c.2028C=
ENST00000455470.6:c.2330C= ENSP00000406565.2:p.Ser777=
ENST00000682775.1:c.2185+12239C= ENSP00000508399.1:n.2185+12239C=
ENST00000682944.1:c.2357C= ENSP00000507173.1:p.Ser786=
ENST00000683210.1:c.2185+12239C= ENSP00000506739.1:n.2185+12239C=
ENST00000683270.1:c.2321C= ENSP00000507624.1:p.Ser774=
ENST00000683367.1:c.2177-12062C= ENSP00000507780.1:n.2177-12062C=
ENST00000683489.1:c.2291+39C= ENSP00000508403.1:n.2291+39C=
ENST00000683680.1:c.2318+39C= ENSP00000507223.1:n.2318+39C=
ENST00000684163.1:c.2203+5265C= ENSP00000508262.1:n.2203+5265C=
ENST00000684196.1:n.4543-12062C=
ENST00000684325.1:c.2185+12239C= ENSP00000508121.1:n.2185+12239C=
ENST00000684385.1:c.2220+5265C= ENSP00000507855.1:n.2220+5265C=
ENST00000684497.1:c.2185+12239C= ENSP00000507057.1:n.2185+12239C=
XM_005266338.1:c.2357C= XP_005266395.1:p.Ser786=
XM_005266338.2:c.2357C= XP_005266395.1:p.Ser786=
XM_011535038.1:c.2381C= XP_011533340.1:p.Ser794=
XM_011535039.1:c.2348C= XP_011533341.1:p.Ser783=
XM_011535039.2:c.2348C= XP_011533341.1:p.Ser783=
XM_017020539.1:c.2321C= XP_016876028.1:p.Ser774=
XM_024449337.1:c.2357C= XP_024305105.1:p.Ser786=