Canonical Allele Identifier: CA483157257
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23904386G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330247G>A , CM000675.2:g.23330247G>A GRCh38
NC_000013.10:g.23904386G>A , CM000675.1:g.23904386G>A GRCh37
NC_000013.9:g.22802386G>A NCBI36
NG_012342.1:g.108456C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18132C>T ENSP00000508399.1:n.2186-18132C>T
ENST00000682944.1:c.13656C>T ENSP00000507173.1:p.Pro4552=
ENST00000683210.1:c.2185+23538C>T ENSP00000506739.1:n.2185+23538C>T
ENST00000683270.1:c.6446-763C>T ENSP00000507624.1:n.6446-763C>T
ENST00000683367.1:c.2177-763C>T ENSP00000507780.1:n.2177-763C>T
ENST00000683489.1:c.2292-295C>T ENSP00000508403.1:n.2292-295C>T
ENST00000683680.1:c.2319-295C>T ENSP00000507223.1:n.2319-295C>T
ENST00000684163.1:c.2204-763C>T ENSP00000508262.1:n.2204-763C>T
ENST00000684196.1:n.4543-763C>T
ENST00000684325.1:c.2186-8573C>T ENSP00000508121.1:n.2186-8573C>T
ENST00000684385.1:c.2221-763C>T ENSP00000507855.1:n.2221-763C>T
ENST00000684497.1:c.2186-7603C>T ENSP00000507057.1:n.2186-7603C>T
ENST00000382292.9:c.13629C>T MANE Select ENSP00000371729.3:p.Pro4543=
ENST00000423156.2:c.2186-763C>T ENSP00000390925.2:n.2186-763C>T
ENST00000455470.6:c.2432-763C>T ENSP00000406565.2:n.2432-763C>T
ENST00000382292.7:c.13629C>T ENSP00000371729.3:p.Pro4543=
ENST00000382298.7:c.13629C>T ENSP00000371735.3:p.Pro4543=
ENST00000402364.1:c.11379C>T ENSP00000385844.1:p.Pro3793=
ENST00000423156.1:c.1058-763C>T ENSP00000390925.1:n.1058-763C>T
ENST00000455470.5:c.2130-763C>T
NM_001278055.1:c.13188C>T NP_001264984.1:p.Pro4396=
NM_014363.5:c.13629C>T NP_055178.3:p.Pro4543=
XM_005266338.1:c.13656C>T XP_005266395.1:p.Pro4552=
XM_011535038.1:c.13680C>T XP_011533340.1:p.Pro4560=
XM_011535039.1:c.13647C>T XP_011533341.1:p.Pro4549=
XM_005266338.2:c.13656C>T XP_005266395.1:p.Pro4552=
XM_011535039.2:c.13647C>T XP_011533341.1:p.Pro4549=
XM_017020539.1:c.13620C>T XP_016876028.1:p.Pro4540=
XM_024449337.1:c.13656C>T XP_024305105.1:p.Pro4552=
NM_014363.6:c.13629C>T MANE Select NP_055178.3:p.Pro4543=
NM_001278055.2:c.13188C>T NP_001264984.1:p.Pro4396=