Canonical Allele Identifier: CA2078629135
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338318A= , CM000675.2:g.23338318A= GRCh38
NC_000013.10:g.23912457A= , CM000675.1:g.23912457A= GRCh37
NC_000013.9:g.22810457A= NCBI36
NG_012342.1:g.100385T=

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+15467T= ENSP00000508399.1:n.2185+15467T=
ENST00000682944.1:c.5585T= ENSP00000507173.1:p.Leu1862=
ENST00000683210.1:c.2185+15467T= ENSP00000506739.1:n.2185+15467T=
ENST00000683270.1:c.5549T= ENSP00000507624.1:p.Leu1850=
ENST00000683367.1:c.2177-8834T= ENSP00000507780.1:n.2177-8834T=
ENST00000683489.1:c.2291+3267T= ENSP00000508403.1:n.2291+3267T=
ENST00000683680.1:c.2318+3267T= ENSP00000507223.1:n.2318+3267T=
ENST00000684163.1:c.2203+8493T= ENSP00000508262.1:n.2203+8493T=
ENST00000684196.1:n.4543-8834T=
ENST00000684325.1:c.2185+15467T= ENSP00000508121.1:n.2185+15467T=
ENST00000684385.1:c.2220+8493T= ENSP00000507855.1:n.2220+8493T=
ENST00000684497.1:c.2185+15467T= ENSP00000507057.1:n.2185+15467T=
ENST00000382292.9:c.5558T= MANE Select ENSP00000371729.3:p.Leu1853=
ENST00000423156.2:c.2186-8834T= ENSP00000390925.2:n.2186-8834T=
ENST00000455470.6:c.2431+3127T= ENSP00000406565.2:n.2431+3127T=
ENST00000382292.7:c.5558T= ENSP00000371729.3:p.Leu1853=
ENST00000382298.7:c.5558T= ENSP00000371735.3:p.Leu1853=
ENST00000402364.1:c.3308T= ENSP00000385844.1:p.Leu1103=
ENST00000423156.1:c.1058-8834T= ENSP00000390925.1:n.1058-8834T=
ENST00000455470.5:c.2129+3127T=
NM_001278055.1:c.5117T= NP_001264984.1:p.Leu1706=
NM_014363.5:c.5558T= NP_055178.3:p.Leu1853=
XM_005266338.1:c.5585T= XP_005266395.1:p.Leu1862=
XM_011535038.1:c.5609T= XP_011533340.1:p.Leu1870=
XM_011535039.1:c.5576T= XP_011533341.1:p.Leu1859=
XM_005266338.2:c.5585T= XP_005266395.1:p.Leu1862=
XM_011535039.2:c.5576T= XP_011533341.1:p.Leu1859=
XM_017020539.1:c.5549T= XP_016876028.1:p.Leu1850=
XM_024449337.1:c.5585T= XP_024305105.1:p.Leu1862=
NM_014363.6:c.5558T= MANE Select NP_055178.3:p.Leu1853=
NM_001278055.2:c.5117T= NP_001264984.1:p.Leu1706=