Canonical Allele Identifier: CA2078628026
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337791G= , CM000675.2:g.23337791G= GRCh38
NC_000013.10:g.23911930G= , CM000675.1:g.23911930G= GRCh37
NC_000013.9:g.22809930G= NCBI36
NG_012342.1:g.100912C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+15994C= ENSP00000508399.1:n.2185+15994C=
ENST00000682944.1:c.6112C= ENSP00000507173.1:p.Leu2038=
ENST00000683210.1:c.2185+15994C= ENSP00000506739.1:n.2185+15994C=
ENST00000683270.1:c.6076C= ENSP00000507624.1:p.Leu2026=
ENST00000683367.1:c.2177-8307C= ENSP00000507780.1:n.2177-8307C=
ENST00000683489.1:c.2291+3794C= ENSP00000508403.1:n.2291+3794C=
ENST00000683680.1:c.2318+3794C= ENSP00000507223.1:n.2318+3794C=
ENST00000684163.1:c.2204-8307C= ENSP00000508262.1:n.2204-8307C=
ENST00000684196.1:n.4543-8307C=
ENST00000684325.1:c.2185+15994C= ENSP00000508121.1:n.2185+15994C=
ENST00000684385.1:c.2221-8307C= ENSP00000507855.1:n.2221-8307C=
ENST00000684497.1:c.2186-15147C= ENSP00000507057.1:n.2186-15147C=
ENST00000382292.9:c.6085C= MANE Select ENSP00000371729.3:p.Leu2029=
ENST00000423156.2:c.2186-8307C= ENSP00000390925.2:n.2186-8307C=
ENST00000455470.6:c.2431+3654C= ENSP00000406565.2:n.2431+3654C=
ENST00000382292.7:c.6085C= ENSP00000371729.3:p.Leu2029=
ENST00000382298.7:c.6085C= ENSP00000371735.3:p.Leu2029=
ENST00000402364.1:c.3835C= ENSP00000385844.1:p.Leu1279=
ENST00000423156.1:c.1058-8307C= ENSP00000390925.1:n.1058-8307C=
ENST00000455470.5:c.2129+3654C=
NM_001278055.1:c.5644C= NP_001264984.1:p.Leu1882=
NM_014363.5:c.6085C= NP_055178.3:p.Leu2029=
XM_005266338.1:c.6112C= XP_005266395.1:p.Leu2038=
XM_011535038.1:c.6136C= XP_011533340.1:p.Leu2046=
XM_011535039.1:c.6103C= XP_011533341.1:p.Leu2035=
XM_005266338.2:c.6112C= XP_005266395.1:p.Leu2038=
XM_011535039.2:c.6103C= XP_011533341.1:p.Leu2035=
XM_017020539.1:c.6076C= XP_016876028.1:p.Leu2026=
XM_024449337.1:c.6112C= XP_024305105.1:p.Leu2038=
NM_014363.6:c.6085C= MANE Select NP_055178.3:p.Leu2029=
NM_001278055.2:c.5644C= NP_001264984.1:p.Leu1882=