Canonical Allele Identifier: CA387525620
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338417A>G , CM000675.2:g.23338417A>G GRCh38
NC_000013.10:g.23912556A>G , CM000675.1:g.23912556A>G GRCh37
NC_000013.9:g.22810556A>G NCBI36
NG_012342.1:g.100286T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+15368T>C ENSP00000508399.1:n.2185+15368T>C
ENST00000682944.1:c.5486T>C ENSP00000507173.1:p.Leu1829Pro
ENST00000683210.1:c.2185+15368T>C ENSP00000506739.1:n.2185+15368T>C
ENST00000683270.1:c.5450T>C ENSP00000507624.1:p.Leu1817Pro
ENST00000683367.1:c.2177-8933T>C ENSP00000507780.1:n.2177-8933T>C
ENST00000683489.1:c.2291+3168T>C ENSP00000508403.1:n.2291+3168T>C
ENST00000683680.1:c.2318+3168T>C ENSP00000507223.1:n.2318+3168T>C
ENST00000684163.1:c.2203+8394T>C ENSP00000508262.1:n.2203+8394T>C
ENST00000684196.1:n.4543-8933T>C
ENST00000684325.1:c.2185+15368T>C ENSP00000508121.1:n.2185+15368T>C
ENST00000684385.1:c.2220+8394T>C ENSP00000507855.1:n.2220+8394T>C
ENST00000684497.1:c.2185+15368T>C ENSP00000507057.1:n.2185+15368T>C
ENST00000382292.9:c.5459T>C MANE Select ENSP00000371729.3:p.Leu1820Pro
ENST00000423156.2:c.2186-8933T>C ENSP00000390925.2:n.2186-8933T>C
ENST00000455470.6:c.2431+3028T>C ENSP00000406565.2:n.2431+3028T>C
ENST00000382292.7:c.5459T>C ENSP00000371729.3:p.Leu1820Pro
ENST00000382298.7:c.5459T>C ENSP00000371735.3:p.Leu1820Pro
ENST00000402364.1:c.3209T>C ENSP00000385844.1:p.Leu1070Pro
ENST00000423156.1:c.1058-8933T>C ENSP00000390925.1:n.1058-8933T>C
ENST00000455470.5:c.2129+3028T>C
NM_001278055.1:c.5018T>C NP_001264984.1:p.Leu1673Pro
NM_014363.5:c.5459T>C NP_055178.3:p.Leu1820Pro
XM_005266338.1:c.5486T>C XP_005266395.1:p.Leu1829Pro
XM_011535038.1:c.5510T>C XP_011533340.1:p.Leu1837Pro
XM_011535039.1:c.5477T>C XP_011533341.1:p.Leu1826Pro
XM_005266338.2:c.5486T>C XP_005266395.1:p.Leu1829Pro
XM_011535039.2:c.5477T>C XP_011533341.1:p.Leu1826Pro
XM_017020539.1:c.5450T>C XP_016876028.1:p.Leu1817Pro
XM_024449337.1:c.5486T>C XP_024305105.1:p.Leu1829Pro
NM_014363.6:c.5459T>C MANE Select NP_055178.3:p.Leu1820Pro
NM_001278055.2:c.5018T>C NP_001264984.1:p.Leu1673Pro