Canonical Allele Identifier: CA2078634097
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334145A= , CM000675.2:g.23334145A= GRCh38
NC_000013.10:g.23908284A= , CM000675.1:g.23908284A= GRCh37
NC_000013.9:g.22806284A= NCBI36
NG_012342.1:g.104558T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19640T= ENSP00000508399.1:n.2185+19640T=
ENST00000682944.1:c.9758T= ENSP00000507173.1:p.Leu3253=
ENST00000683210.1:c.2185+19640T= ENSP00000506739.1:n.2185+19640T=
ENST00000683270.1:c.6445+3277T= ENSP00000507624.1:n.6445+3277T=
ENST00000683367.1:c.2177-4661T= ENSP00000507780.1:n.2177-4661T=
ENST00000683489.1:c.2292-4193T= ENSP00000508403.1:n.2292-4193T=
ENST00000683680.1:c.2319-4193T= ENSP00000507223.1:n.2319-4193T=
ENST00000684163.1:c.2204-4661T= ENSP00000508262.1:n.2204-4661T=
ENST00000684196.1:n.4543-4661T=
ENST00000684325.1:c.2186-12471T= ENSP00000508121.1:n.2186-12471T=
ENST00000684385.1:c.2221-4661T= ENSP00000507855.1:n.2221-4661T=
ENST00000684497.1:c.2186-11501T= ENSP00000507057.1:n.2186-11501T=
ENST00000382292.9:c.9731T= MANE Select ENSP00000371729.3:p.Leu3244=
ENST00000423156.2:c.2186-4661T= ENSP00000390925.2:n.2186-4661T=
ENST00000455470.6:c.2432-4661T= ENSP00000406565.2:n.2432-4661T=
ENST00000382292.7:c.9731T= ENSP00000371729.3:p.Leu3244=
ENST00000382298.7:c.9731T= ENSP00000371735.3:p.Leu3244=
ENST00000402364.1:c.7481T= ENSP00000385844.1:p.Leu2494=
ENST00000423156.1:c.1058-4661T= ENSP00000390925.1:n.1058-4661T=
ENST00000455470.5:c.2130-4661T=
NM_001278055.1:c.9290T= NP_001264984.1:p.Leu3097=
NM_014363.5:c.9731T= NP_055178.3:p.Leu3244=
XM_005266338.1:c.9758T= XP_005266395.1:p.Leu3253=
XM_011535038.1:c.9782T= XP_011533340.1:p.Leu3261=
XM_011535039.1:c.9749T= XP_011533341.1:p.Leu3250=
XM_005266338.2:c.9758T= XP_005266395.1:p.Leu3253=
XM_011535039.2:c.9749T= XP_011533341.1:p.Leu3250=
XM_017020539.1:c.9722T= XP_016876028.1:p.Leu3241=
XM_024449337.1:c.9758T= XP_024305105.1:p.Leu3253=
NM_014363.6:c.9731T= MANE Select NP_055178.3:p.Leu3244=
NM_001278055.2:c.9290T= NP_001264984.1:p.Leu3097=