Canonical Allele Identifier: CA6910220
Community Standard Title: NM_014363.6(SACS):c.11780C>T (p.Ala3927Val)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332096G>A , CM000675.2:g.23332096G>A GRCh38
NC_000013.10:g.23906235G>A , CM000675.1:g.23906235G>A GRCh37
NC_000013.9:g.22804235G>A NCBI36
NG_012342.1:g.106607C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.11780C>T MANE Select NP_055178.3:p.Ala3927Val
ENST00000382292.9:c.11780C>T MANE Select ENSP00000371729.3:p.Ala3927Val
NM_001278055.1:c.11339C>T NP_001264984.1:p.Ala3780Val
NM_001278055.2:c.11339C>T NP_001264984.1:p.Ala3780Val
NM_014363.5:c.11780C>T NP_055178.3:p.Ala3927Val
ENST00000382292.7:c.11780C>T ENSP00000371729.3:p.Ala3927Val
ENST00000382298.7:c.11780C>T ENSP00000371735.3:p.Ala3927Val
ENST00000402364.1:c.9530C>T ENSP00000385844.1:p.Ala3177Val
ENST00000423156.1:c.1058-2612C>T ENSP00000390925.1:n.1058-2612C>T
ENST00000423156.2:c.2186-2612C>T ENSP00000390925.2:n.2186-2612C>T
ENST00000455470.5:c.2130-2612C>T
ENST00000455470.6:c.2432-2612C>T ENSP00000406565.2:n.2432-2612C>T
ENST00000682775.1:c.2186-19981C>T ENSP00000508399.1:n.2186-19981C>T
ENST00000682944.1:c.11807C>T ENSP00000507173.1:p.Ala3936Val
ENST00000683210.1:c.2185+21689C>T ENSP00000506739.1:n.2185+21689C>T
ENST00000683270.1:c.6446-2612C>T ENSP00000507624.1:n.6446-2612C>T
ENST00000683367.1:c.2177-2612C>T ENSP00000507780.1:n.2177-2612C>T
ENST00000683489.1:c.2292-2144C>T ENSP00000508403.1:n.2292-2144C>T
ENST00000683680.1:c.2319-2144C>T ENSP00000507223.1:n.2319-2144C>T
ENST00000684163.1:c.2204-2612C>T ENSP00000508262.1:n.2204-2612C>T
ENST00000684196.1:n.4543-2612C>T
ENST00000684325.1:c.2186-10422C>T ENSP00000508121.1:n.2186-10422C>T
ENST00000684385.1:c.2221-2612C>T ENSP00000507855.1:n.2221-2612C>T
ENST00000684497.1:c.2186-9452C>T ENSP00000507057.1:n.2186-9452C>T
XM_005266338.1:c.11807C>T XP_005266395.1:p.Ala3936Val
XM_005266338.2:c.11807C>T XP_005266395.1:p.Ala3936Val
XM_011535038.1:c.11831C>T XP_011533340.1:p.Ala3944Val
XM_011535039.1:c.11798C>T XP_011533341.1:p.Ala3933Val
XM_011535039.2:c.11798C>T XP_011533341.1:p.Ala3933Val
XM_017020539.1:c.11771C>T XP_016876028.1:p.Ala3924Val
XM_024449337.1:c.11807C>T XP_024305105.1:p.Ala3936Val