Canonical Allele Identifier: CA387525680
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 426362
ClinVar RCV Id: RCV000490163
dbSNP Id: rs1085307587
MyVariant Identifiers: chr13:g.23912584T>A (hg19) chr13:g.23338445T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338445T>A , CM000675.2:g.23338445T>A GRCh38
NC_000013.10:g.23912584T>A , CM000675.1:g.23912584T>A GRCh37
NC_000013.9:g.22810584T>A NCBI36
NG_012342.1:g.100258A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+15340A>T ENSP00000508399.1:n.2185+15340A>T
ENST00000682944.1:c.5458A>T ENSP00000507173.1:p.Lys1820Ter
ENST00000683210.1:c.2185+15340A>T ENSP00000506739.1:n.2185+15340A>T
ENST00000683270.1:c.5422A>T ENSP00000507624.1:p.Lys1808Ter
ENST00000683367.1:c.2177-8961A>T ENSP00000507780.1:n.2177-8961A>T
ENST00000683489.1:c.2291+3140A>T ENSP00000508403.1:n.2291+3140A>T
ENST00000683680.1:c.2318+3140A>T ENSP00000507223.1:n.2318+3140A>T
ENST00000684163.1:c.2203+8366A>T ENSP00000508262.1:n.2203+8366A>T
ENST00000684196.1:n.4543-8961A>T
ENST00000684325.1:c.2185+15340A>T ENSP00000508121.1:n.2185+15340A>T
ENST00000684385.1:c.2220+8366A>T ENSP00000507855.1:n.2220+8366A>T
ENST00000684497.1:c.2185+15340A>T ENSP00000507057.1:n.2185+15340A>T
ENST00000382292.9:c.5431A>T MANE Select ENSP00000371729.3:p.Lys1811Ter
ENST00000423156.2:c.2186-8961A>T ENSP00000390925.2:n.2186-8961A>T
ENST00000455470.6:c.2431+3000A>T ENSP00000406565.2:n.2431+3000A>T
ENST00000382292.7:c.5431A>T ENSP00000371729.3:p.Lys1811Ter
ENST00000382298.7:c.5431A>T ENSP00000371735.3:p.Lys1811Ter
ENST00000402364.1:c.3181A>T ENSP00000385844.1:p.Lys1061Ter
ENST00000423156.1:c.1058-8961A>T ENSP00000390925.1:n.1058-8961A>T
ENST00000455470.5:c.2129+3000A>T
NM_001278055.1:c.4990A>T NP_001264984.1:p.Lys1664Ter
NM_014363.5:c.5431A>T NP_055178.3:p.Lys1811Ter
XM_005266338.1:c.5458A>T XP_005266395.1:p.Lys1820Ter
XM_011535038.1:c.5482A>T XP_011533340.1:p.Lys1828Ter
XM_011535039.1:c.5449A>T XP_011533341.1:p.Lys1817Ter
XM_005266338.2:c.5458A>T XP_005266395.1:p.Lys1820Ter
XM_011535039.2:c.5449A>T XP_011533341.1:p.Lys1817Ter
XM_017020539.1:c.5422A>T XP_016876028.1:p.Lys1808Ter
XM_024449337.1:c.5458A>T XP_024305105.1:p.Lys1820Ter
NM_014363.6:c.5431A>T MANE Select NP_055178.3:p.Lys1811Ter
NM_001278055.2:c.4990A>T NP_001264984.1:p.Lys1664Ter
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