Canonical Allele Identifier: CA387547172
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23354918A>T , CM000675.2:g.23354918A>T GRCh38
NC_000013.10:g.23929057A>T , CM000675.1:g.23929057A>T GRCh37
NC_000013.9:g.22827057A>T NCBI36
NG_012342.1:g.83785T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.1694T>A ENSP00000508399.1:p.Ile565Asn
ENST00000682944.1:c.1694T>A ENSP00000507173.1:p.Ile565Asn
ENST00000683154.1:n.1832T>A
ENST00000683210.1:c.1694T>A ENSP00000506739.1:p.Ile565Asn
ENST00000683270.1:c.1685T>A ENSP00000507624.1:p.Ile562Asn
ENST00000683367.1:c.1685T>A ENSP00000507780.1:p.Ile562Asn
ENST00000683489.1:c.1694T>A ENSP00000508403.1:p.Ile565Asn
ENST00000683680.1:c.1694T>A ENSP00000507223.1:p.Ile565Asn
ENST00000684163.1:c.1685T>A ENSP00000508262.1:p.Ile562Asn
ENST00000684196.1:n.4051T>A
ENST00000684325.1:c.1694T>A ENSP00000508121.1:p.Ile565Asn
ENST00000684385.1:c.1694T>A ENSP00000507855.1:p.Ile565Asn
ENST00000684497.1:c.1694T>A ENSP00000507057.1:p.Ile565Asn
ENST00000382292.9:c.1694T>A MANE Select ENSP00000371729.3:p.Ile565Asn
ENST00000423156.2:c.1694T>A ENSP00000390925.2:p.Ile565Asn
ENST00000455470.6:c.1694T>A ENSP00000406565.2:p.Ile565Asn
ENST00000382292.7:c.1694T>A ENSP00000371729.3:p.Ile565Asn
ENST00000382298.7:c.1694T>A ENSP00000371735.3:p.Ile565Asn
ENST00000402364.1:c.-557T>A ENSP00000385844.1:n.-557T>A
ENST00000423156.1:c.566T>A ENSP00000390925.1:p.Ile189Asn
ENST00000455470.5:c.1392T>A
NM_001278055.1:c.1253T>A NP_001264984.1:p.Ile418Asn
NM_014363.5:c.1694T>A NP_055178.3:p.Ile565Asn
XM_005266338.1:c.1694T>A XP_005266395.1:p.Ile565Asn
XM_011535038.1:c.1718T>A XP_011533340.1:p.Ile573Asn
XM_011535039.1:c.1685T>A XP_011533341.1:p.Ile562Asn
XM_005266338.2:c.1694T>A XP_005266395.1:p.Ile565Asn
XM_011535039.2:c.1685T>A XP_011533341.1:p.Ile562Asn
XM_017020539.1:c.1685T>A XP_016876028.1:p.Ile562Asn
XM_024449337.1:c.1694T>A XP_024305105.1:p.Ile565Asn
NM_014363.6:c.1694T>A MANE Select NP_055178.3:p.Ile565Asn
NM_001278055.2:c.1253T>A NP_001264984.1:p.Ile418Asn