Canonical Allele Identifier: CA387506182
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330855T>G , CM000675.2:g.23330855T>G GRCh38
NC_000013.10:g.23904994T>G , CM000675.1:g.23904994T>G GRCh37
NC_000013.9:g.22802994T>G NCBI36
NG_012342.1:g.107848A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18740A>C ENSP00000508399.1:n.2186-18740A>C
ENST00000682944.1:c.13048A>C ENSP00000507173.1:p.Asn4350His
ENST00000683210.1:c.2185+22930A>C ENSP00000506739.1:n.2185+22930A>C
ENST00000683270.1:c.6446-1371A>C ENSP00000507624.1:n.6446-1371A>C
ENST00000683367.1:c.2177-1371A>C ENSP00000507780.1:n.2177-1371A>C
ENST00000683489.1:c.2292-903A>C ENSP00000508403.1:n.2292-903A>C
ENST00000683680.1:c.2319-903A>C ENSP00000507223.1:n.2319-903A>C
ENST00000684163.1:c.2204-1371A>C ENSP00000508262.1:n.2204-1371A>C
ENST00000684196.1:n.4543-1371A>C
ENST00000684325.1:c.2186-9181A>C ENSP00000508121.1:n.2186-9181A>C
ENST00000684385.1:c.2221-1371A>C ENSP00000507855.1:n.2221-1371A>C
ENST00000684497.1:c.2186-8211A>C ENSP00000507057.1:n.2186-8211A>C
ENST00000382292.9:c.13021A>C MANE Select ENSP00000371729.3:p.Asn4341His
ENST00000423156.2:c.2186-1371A>C ENSP00000390925.2:n.2186-1371A>C
ENST00000455470.6:c.2432-1371A>C ENSP00000406565.2:n.2432-1371A>C
ENST00000382292.7:c.13021A>C ENSP00000371729.3:p.Asn4341His
ENST00000382298.7:c.13021A>C ENSP00000371735.3:p.Asn4341His
ENST00000402364.1:c.10771A>C ENSP00000385844.1:p.Asn3591His
ENST00000423156.1:c.1058-1371A>C ENSP00000390925.1:n.1058-1371A>C
ENST00000455470.5:c.2130-1371A>C
NM_001278055.1:c.12580A>C NP_001264984.1:p.Asn4194His
NM_014363.5:c.13021A>C NP_055178.3:p.Asn4341His
XM_005266338.1:c.13048A>C XP_005266395.1:p.Asn4350His
XM_011535038.1:c.13072A>C XP_011533340.1:p.Asn4358His
XM_011535039.1:c.13039A>C XP_011533341.1:p.Asn4347His
XM_005266338.2:c.13048A>C XP_005266395.1:p.Asn4350His
XM_011535039.2:c.13039A>C XP_011533341.1:p.Asn4347His
XM_017020539.1:c.13012A>C XP_016876028.1:p.Asn4338His
XM_024449337.1:c.13048A>C XP_024305105.1:p.Asn4350His
NM_014363.6:c.13021A>C MANE Select NP_055178.3:p.Asn4341His
NM_001278055.2:c.12580A>C NP_001264984.1:p.Asn4194His