Canonical Allele Identifier: CA387512752
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2919465
ClinVar RCV Id: RCV003751591
dbSNP Id: rs1228268410

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333682C>A , CM000675.2:g.23333682C>A GRCh38
NC_000013.10:g.23907821C>A , CM000675.1:g.23907821C>A GRCh37
NC_000013.9:g.22805821C>A NCBI36
NG_012342.1:g.105021G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20103G>T ENSP00000508399.1:n.2185+20103G>T
ENST00000682944.1:c.10221G>T ENSP00000507173.1:p.Leu3407Phe
ENST00000683210.1:c.2185+20103G>T ENSP00000506739.1:n.2185+20103G>T
ENST00000683270.1:c.6445+3740G>T ENSP00000507624.1:n.6445+3740G>T
ENST00000683367.1:c.2177-4198G>T ENSP00000507780.1:n.2177-4198G>T
ENST00000683489.1:c.2292-3730G>T ENSP00000508403.1:n.2292-3730G>T
ENST00000683680.1:c.2319-3730G>T ENSP00000507223.1:n.2319-3730G>T
ENST00000684163.1:c.2204-4198G>T ENSP00000508262.1:n.2204-4198G>T
ENST00000684196.1:n.4543-4198G>T
ENST00000684325.1:c.2186-12008G>T ENSP00000508121.1:n.2186-12008G>T
ENST00000684385.1:c.2221-4198G>T ENSP00000507855.1:n.2221-4198G>T
ENST00000684497.1:c.2186-11038G>T ENSP00000507057.1:n.2186-11038G>T
ENST00000382292.9:c.10194G>T MANE Select ENSP00000371729.3:p.Leu3398Phe
ENST00000423156.2:c.2186-4198G>T ENSP00000390925.2:n.2186-4198G>T
ENST00000455470.6:c.2432-4198G>T ENSP00000406565.2:n.2432-4198G>T
ENST00000382292.7:c.10194G>T ENSP00000371729.3:p.Leu3398Phe
ENST00000382298.7:c.10194G>T ENSP00000371735.3:p.Leu3398Phe
ENST00000402364.1:c.7944G>T ENSP00000385844.1:p.Leu2648Phe
ENST00000423156.1:c.1058-4198G>T ENSP00000390925.1:n.1058-4198G>T
ENST00000455470.5:c.2130-4198G>T
NM_001278055.1:c.9753G>T NP_001264984.1:p.Leu3251Phe
NM_014363.5:c.10194G>T NP_055178.3:p.Leu3398Phe
XM_005266338.1:c.10221G>T XP_005266395.1:p.Leu3407Phe
XM_011535038.1:c.10245G>T XP_011533340.1:p.Leu3415Phe
XM_011535039.1:c.10212G>T XP_011533341.1:p.Leu3404Phe
XM_005266338.2:c.10221G>T XP_005266395.1:p.Leu3407Phe
XM_011535039.2:c.10212G>T XP_011533341.1:p.Leu3404Phe
XM_017020539.1:c.10185G>T XP_016876028.1:p.Leu3395Phe
XM_024449337.1:c.10221G>T XP_024305105.1:p.Leu3407Phe
NM_014363.6:c.10194G>T MANE Select NP_055178.3:p.Leu3398Phe
NM_001278055.2:c.9753G>T NP_001264984.1:p.Leu3251Phe