Canonical Allele Identifier: CA387524275
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs1868810047

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337950T>C , CM000675.2:g.23337950T>C GRCh38
NC_000013.10:g.23912089T>C , CM000675.1:g.23912089T>C GRCh37
NC_000013.9:g.22810089T>C NCBI36
NG_012342.1:g.100753A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+15835A>G ENSP00000508399.1:n.2185+15835A>G
ENST00000682944.1:c.5953A>G ENSP00000507173.1:p.Thr1985Ala
ENST00000683210.1:c.2185+15835A>G ENSP00000506739.1:n.2185+15835A>G
ENST00000683270.1:c.5917A>G ENSP00000507624.1:p.Thr1973Ala
ENST00000683367.1:c.2177-8466A>G ENSP00000507780.1:n.2177-8466A>G
ENST00000683489.1:c.2291+3635A>G ENSP00000508403.1:n.2291+3635A>G
ENST00000683680.1:c.2318+3635A>G ENSP00000507223.1:n.2318+3635A>G
ENST00000684163.1:c.2204-8466A>G ENSP00000508262.1:n.2204-8466A>G
ENST00000684196.1:n.4543-8466A>G
ENST00000684325.1:c.2185+15835A>G ENSP00000508121.1:n.2185+15835A>G
ENST00000684385.1:c.2221-8466A>G ENSP00000507855.1:n.2221-8466A>G
ENST00000684497.1:c.2186-15306A>G ENSP00000507057.1:n.2186-15306A>G
ENST00000382292.9:c.5926A>G MANE Select ENSP00000371729.3:p.Thr1976Ala
ENST00000423156.2:c.2186-8466A>G ENSP00000390925.2:n.2186-8466A>G
ENST00000455470.6:c.2431+3495A>G ENSP00000406565.2:n.2431+3495A>G
ENST00000382292.7:c.5926A>G ENSP00000371729.3:p.Thr1976Ala
ENST00000382298.7:c.5926A>G ENSP00000371735.3:p.Thr1976Ala
ENST00000402364.1:c.3676A>G ENSP00000385844.1:p.Thr1226Ala
ENST00000423156.1:c.1058-8466A>G ENSP00000390925.1:n.1058-8466A>G
ENST00000455470.5:c.2129+3495A>G
NM_001278055.1:c.5485A>G NP_001264984.1:p.Thr1829Ala
NM_014363.5:c.5926A>G NP_055178.3:p.Thr1976Ala
XM_005266338.1:c.5953A>G XP_005266395.1:p.Thr1985Ala
XM_011535038.1:c.5977A>G XP_011533340.1:p.Thr1993Ala
XM_011535039.1:c.5944A>G XP_011533341.1:p.Thr1982Ala
XM_005266338.2:c.5953A>G XP_005266395.1:p.Thr1985Ala
XM_011535039.2:c.5944A>G XP_011533341.1:p.Thr1982Ala
XM_017020539.1:c.5917A>G XP_016876028.1:p.Thr1973Ala
XM_024449337.1:c.5953A>G XP_024305105.1:p.Thr1985Ala
NM_014363.6:c.5926A>G MANE Select NP_055178.3:p.Thr1976Ala
NM_001278055.2:c.5485A>G NP_001264984.1:p.Thr1829Ala