Canonical Allele Identifier: CA483157211
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23904308T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330169T>A , CM000675.2:g.23330169T>A GRCh38
NC_000013.10:g.23904308T>A , CM000675.1:g.23904308T>A GRCh37
NC_000013.9:g.22802308T>A NCBI36
NG_012342.1:g.108534A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18054A>T ENSP00000508399.1:n.2186-18054A>T
ENST00000682944.1:c.13734A>T ENSP00000507173.1:p.Ile4578=
ENST00000683210.1:c.2185+23616A>T ENSP00000506739.1:n.2185+23616A>T
ENST00000683270.1:c.6446-685A>T ENSP00000507624.1:n.6446-685A>T
ENST00000683367.1:c.2177-685A>T ENSP00000507780.1:n.2177-685A>T
ENST00000683489.1:c.2292-217A>T ENSP00000508403.1:n.2292-217A>T
ENST00000683680.1:c.2319-217A>T ENSP00000507223.1:n.2319-217A>T
ENST00000684163.1:c.2204-685A>T ENSP00000508262.1:n.2204-685A>T
ENST00000684196.1:n.4543-685A>T
ENST00000684325.1:c.2186-8495A>T ENSP00000508121.1:n.2186-8495A>T
ENST00000684385.1:c.2221-685A>T ENSP00000507855.1:n.2221-685A>T
ENST00000684497.1:c.2186-7525A>T ENSP00000507057.1:n.2186-7525A>T
ENST00000382292.9:c.13707A>T MANE Select ENSP00000371729.3:p.Ile4569=
ENST00000423156.2:c.2186-685A>T ENSP00000390925.2:n.2186-685A>T
ENST00000455470.6:c.2432-685A>T ENSP00000406565.2:n.2432-685A>T
ENST00000382292.7:c.13707A>T ENSP00000371729.3:p.Ile4569=
ENST00000382298.7:c.13707A>T ENSP00000371735.3:p.Ile4569=
ENST00000402364.1:c.11457A>T ENSP00000385844.1:p.Ile3819=
ENST00000423156.1:c.1058-685A>T ENSP00000390925.1:n.1058-685A>T
ENST00000455470.5:c.2130-685A>T
NM_001278055.1:c.13266A>T NP_001264984.1:p.Ile4422=
NM_014363.5:c.13707A>T NP_055178.3:p.Ile4569=
XM_005266338.1:c.13734A>T XP_005266395.1:p.Ile4578=
XM_011535038.1:c.13758A>T XP_011533340.1:p.Ile4586=
XM_011535039.1:c.13725A>T XP_011533341.1:p.Ile4575=
XM_005266338.2:c.13734A>T XP_005266395.1:p.Ile4578=
XM_011535039.2:c.13725A>T XP_011533341.1:p.Ile4575=
XM_017020539.1:c.13698A>T XP_016876028.1:p.Ile4566=
XM_024449337.1:c.13734A>T XP_024305105.1:p.Ile4578=
NM_014363.6:c.13707A>T MANE Select NP_055178.3:p.Ile4569=
NM_001278055.2:c.13266A>T NP_001264984.1:p.Ile4422=