Canonical Allele Identifier: CA483158707
Gene: SACS HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.23907073G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332934G>A , CM000675.2:g.23332934G>A GRCh38
NC_000013.10:g.23907073G>A , CM000675.1:g.23907073G>A GRCh37
NC_000013.9:g.22805073G>A NCBI36
NG_012342.1:g.105769C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-20819C>T ENSP00000508399.1:n.2186-20819C>T
ENST00000682944.1:c.10969C>T ENSP00000507173.1:p.Leu3657=
ENST00000683210.1:c.2185+20851C>T ENSP00000506739.1:n.2185+20851C>T
ENST00000683270.1:c.6446-3450C>T ENSP00000507624.1:n.6446-3450C>T
ENST00000683367.1:c.2177-3450C>T ENSP00000507780.1:n.2177-3450C>T
ENST00000683489.1:c.2292-2982C>T ENSP00000508403.1:n.2292-2982C>T
ENST00000683680.1:c.2319-2982C>T ENSP00000507223.1:n.2319-2982C>T
ENST00000684163.1:c.2204-3450C>T ENSP00000508262.1:n.2204-3450C>T
ENST00000684196.1:n.4543-3450C>T
ENST00000684325.1:c.2186-11260C>T ENSP00000508121.1:n.2186-11260C>T
ENST00000684385.1:c.2221-3450C>T ENSP00000507855.1:n.2221-3450C>T
ENST00000684497.1:c.2186-10290C>T ENSP00000507057.1:n.2186-10290C>T
ENST00000382292.9:c.10942C>T MANE Select ENSP00000371729.3:p.Leu3648=
ENST00000423156.2:c.2186-3450C>T ENSP00000390925.2:n.2186-3450C>T
ENST00000455470.6:c.2432-3450C>T ENSP00000406565.2:n.2432-3450C>T
ENST00000382292.7:c.10942C>T ENSP00000371729.3:p.Leu3648=
ENST00000382298.7:c.10942C>T ENSP00000371735.3:p.Leu3648=
ENST00000402364.1:c.8692C>T ENSP00000385844.1:p.Leu2898=
ENST00000423156.1:c.1058-3450C>T ENSP00000390925.1:n.1058-3450C>T
ENST00000455470.5:c.2130-3450C>T
NM_001278055.1:c.10501C>T NP_001264984.1:p.Leu3501=
NM_014363.5:c.10942C>T NP_055178.3:p.Leu3648=
XM_005266338.1:c.10969C>T XP_005266395.1:p.Leu3657=
XM_011535038.1:c.10993C>T XP_011533340.1:p.Leu3665=
XM_011535039.1:c.10960C>T XP_011533341.1:p.Leu3654=
XM_005266338.2:c.10969C>T XP_005266395.1:p.Leu3657=
XM_011535039.2:c.10960C>T XP_011533341.1:p.Leu3654=
XM_017020539.1:c.10933C>T XP_016876028.1:p.Leu3645=
XM_024449337.1:c.10969C>T XP_024305105.1:p.Leu3657=
NM_014363.6:c.10942C>T MANE Select NP_055178.3:p.Leu3648=
NM_001278055.2:c.10501C>T NP_001264984.1:p.Leu3501=