Canonical Allele Identifier: CA246659758
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs979327782

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339030T>A , CM000675.2:g.23339030T>A GRCh38
NC_000013.10:g.23913169T>A , CM000675.1:g.23913169T>A GRCh37
NC_000013.9:g.22811169T>A NCBI36
NG_012342.1:g.99673A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+14755A>T ENSP00000508399.1:n.2185+14755A>T
ENST00000682944.1:c.4873A>T ENSP00000507173.1:p.Asn1625Tyr
ENST00000683210.1:c.2185+14755A>T ENSP00000506739.1:n.2185+14755A>T
ENST00000683270.1:c.4837A>T ENSP00000507624.1:p.Asn1613Tyr
ENST00000683367.1:c.2177-9546A>T ENSP00000507780.1:n.2177-9546A>T
ENST00000683489.1:c.2291+2555A>T ENSP00000508403.1:n.2291+2555A>T
ENST00000683680.1:c.2318+2555A>T ENSP00000507223.1:n.2318+2555A>T
ENST00000684163.1:c.2203+7781A>T ENSP00000508262.1:n.2203+7781A>T
ENST00000684196.1:n.4543-9546A>T
ENST00000684325.1:c.2185+14755A>T ENSP00000508121.1:n.2185+14755A>T
ENST00000684385.1:c.2220+7781A>T ENSP00000507855.1:n.2220+7781A>T
ENST00000684497.1:c.2185+14755A>T ENSP00000507057.1:n.2185+14755A>T
ENST00000382292.9:c.4846A>T MANE Select ENSP00000371729.3:p.Asn1616Tyr
ENST00000423156.2:c.2186-9546A>T ENSP00000390925.2:n.2186-9546A>T
ENST00000455470.6:c.2431+2415A>T ENSP00000406565.2:n.2431+2415A>T
ENST00000382292.7:c.4846A>T ENSP00000371729.3:p.Asn1616Tyr
ENST00000382298.7:c.4846A>T ENSP00000371735.3:p.Asn1616Tyr
ENST00000402364.1:c.2596A>T ENSP00000385844.1:p.Asn866Tyr
ENST00000423156.1:c.1058-9546A>T ENSP00000390925.1:n.1058-9546A>T
ENST00000455470.5:c.2129+2415A>T
NM_001278055.1:c.4405A>T NP_001264984.1:p.Asn1469Tyr
NM_014363.5:c.4846A>T NP_055178.3:p.Asn1616Tyr
XM_005266338.1:c.4873A>T XP_005266395.1:p.Asn1625Tyr
XM_011535038.1:c.4897A>T XP_011533340.1:p.Asn1633Tyr
XM_011535039.1:c.4864A>T XP_011533341.1:p.Asn1622Tyr
XM_005266338.2:c.4873A>T XP_005266395.1:p.Asn1625Tyr
XM_011535039.2:c.4864A>T XP_011533341.1:p.Asn1622Tyr
XM_017020539.1:c.4837A>T XP_016876028.1:p.Asn1613Tyr
XM_024449337.1:c.4873A>T XP_024305105.1:p.Asn1625Tyr
NM_014363.6:c.4846A>T MANE Select NP_055178.3:p.Asn1616Tyr
NM_001278055.2:c.4405A>T NP_001264984.1:p.Asn1469Tyr