Canonical Allele Identifier: CA6910303
Community Standard Title: NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332575T>A , CM000675.2:g.23332575T>A GRCh38
NC_000013.10:g.23906714T>A , CM000675.1:g.23906714T>A GRCh37
NC_000013.9:g.22804714T>A NCBI36
NG_012342.1:g.106128A>T

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.11301A>T MANE Select NP_055178.3:p.Lys3767Asn
ENST00000382292.9:c.11301A>T MANE Select ENSP00000371729.3:p.Lys3767Asn
NM_001278055.1:c.10860A>T NP_001264984.1:p.Lys3620Asn
NM_001278055.2:c.10860A>T NP_001264984.1:p.Lys3620Asn
NM_014363.5:c.11301A>T NP_055178.3:p.Lys3767Asn
ENST00000382292.7:c.11301A>T ENSP00000371729.3:p.Lys3767Asn
ENST00000382298.7:c.11301A>T ENSP00000371735.3:p.Lys3767Asn
ENST00000402364.1:c.9051A>T ENSP00000385844.1:p.Lys3017Asn
ENST00000423156.1:c.1058-3091A>T ENSP00000390925.1:n.1058-3091A>T
ENST00000423156.2:c.2186-3091A>T ENSP00000390925.2:n.2186-3091A>T
ENST00000455470.5:c.2130-3091A>T
ENST00000455470.6:c.2432-3091A>T ENSP00000406565.2:n.2432-3091A>T
ENST00000682775.1:c.2186-20460A>T ENSP00000508399.1:n.2186-20460A>T
ENST00000682944.1:c.11328A>T ENSP00000507173.1:p.Lys3776Asn
ENST00000683210.1:c.2185+21210A>T ENSP00000506739.1:n.2185+21210A>T
ENST00000683270.1:c.6446-3091A>T ENSP00000507624.1:n.6446-3091A>T
ENST00000683367.1:c.2177-3091A>T ENSP00000507780.1:n.2177-3091A>T
ENST00000683489.1:c.2292-2623A>T ENSP00000508403.1:n.2292-2623A>T
ENST00000683680.1:c.2319-2623A>T ENSP00000507223.1:n.2319-2623A>T
ENST00000684163.1:c.2204-3091A>T ENSP00000508262.1:n.2204-3091A>T
ENST00000684196.1:n.4543-3091A>T
ENST00000684325.1:c.2186-10901A>T ENSP00000508121.1:n.2186-10901A>T
ENST00000684385.1:c.2221-3091A>T ENSP00000507855.1:n.2221-3091A>T
ENST00000684497.1:c.2186-9931A>T ENSP00000507057.1:n.2186-9931A>T
XM_005266338.1:c.11328A>T XP_005266395.1:p.Lys3776Asn
XM_005266338.2:c.11328A>T XP_005266395.1:p.Lys3776Asn
XM_011535038.1:c.11352A>T XP_011533340.1:p.Lys3784Asn
XM_011535039.1:c.11319A>T XP_011533341.1:p.Lys3773Asn
XM_011535039.2:c.11319A>T XP_011533341.1:p.Lys3773Asn
XM_017020539.1:c.11292A>T XP_016876028.1:p.Lys3764Asn
XM_024449337.1:c.11328A>T XP_024305105.1:p.Lys3776Asn