Canonical Allele Identifier: CA483157302
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23904419G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330280G>A , CM000675.2:g.23330280G>A GRCh38
NC_000013.10:g.23904419G>A , CM000675.1:g.23904419G>A GRCh37
NC_000013.9:g.22802419G>A NCBI36
NG_012342.1:g.108423C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18165C>T ENSP00000508399.1:n.2186-18165C>T
ENST00000682944.1:c.13623C>T ENSP00000507173.1:p.Asp4541=
ENST00000683210.1:c.2185+23505C>T ENSP00000506739.1:n.2185+23505C>T
ENST00000683270.1:c.6446-796C>T ENSP00000507624.1:n.6446-796C>T
ENST00000683367.1:c.2177-796C>T ENSP00000507780.1:n.2177-796C>T
ENST00000683489.1:c.2292-328C>T ENSP00000508403.1:n.2292-328C>T
ENST00000683680.1:c.2319-328C>T ENSP00000507223.1:n.2319-328C>T
ENST00000684163.1:c.2204-796C>T ENSP00000508262.1:n.2204-796C>T
ENST00000684196.1:n.4543-796C>T
ENST00000684325.1:c.2186-8606C>T ENSP00000508121.1:n.2186-8606C>T
ENST00000684385.1:c.2221-796C>T ENSP00000507855.1:n.2221-796C>T
ENST00000684497.1:c.2186-7636C>T ENSP00000507057.1:n.2186-7636C>T
ENST00000382292.9:c.13596C>T MANE Select ENSP00000371729.3:p.Asp4532=
ENST00000423156.2:c.2186-796C>T ENSP00000390925.2:n.2186-796C>T
ENST00000455470.6:c.2432-796C>T ENSP00000406565.2:n.2432-796C>T
ENST00000382292.7:c.13596C>T ENSP00000371729.3:p.Asp4532=
ENST00000382298.7:c.13596C>T ENSP00000371735.3:p.Asp4532=
ENST00000402364.1:c.11346C>T ENSP00000385844.1:p.Asp3782=
ENST00000423156.1:c.1058-796C>T ENSP00000390925.1:n.1058-796C>T
ENST00000455470.5:c.2130-796C>T
NM_001278055.1:c.13155C>T NP_001264984.1:p.Asp4385=
NM_014363.5:c.13596C>T NP_055178.3:p.Asp4532=
XM_005266338.1:c.13623C>T XP_005266395.1:p.Asp4541=
XM_011535038.1:c.13647C>T XP_011533340.1:p.Asp4549=
XM_011535039.1:c.13614C>T XP_011533341.1:p.Asp4538=
XM_005266338.2:c.13623C>T XP_005266395.1:p.Asp4541=
XM_011535039.2:c.13614C>T XP_011533341.1:p.Asp4538=
XM_017020539.1:c.13587C>T XP_016876028.1:p.Asp4529=
XM_024449337.1:c.13623C>T XP_024305105.1:p.Asp4541=
NM_014363.6:c.13596C>T MANE Select NP_055178.3:p.Asp4532=
NM_001278055.2:c.13155C>T NP_001264984.1:p.Asp4385=