Canonical Allele Identifier: CA387525607
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338411G>C , CM000675.2:g.23338411G>C GRCh38
NC_000013.10:g.23912550G>C , CM000675.1:g.23912550G>C GRCh37
NC_000013.9:g.22810550G>C NCBI36
NG_012342.1:g.100292C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+15374C>G ENSP00000508399.1:n.2185+15374C>G
ENST00000682944.1:c.5492C>G ENSP00000507173.1:p.Thr1831Ser
ENST00000683210.1:c.2185+15374C>G ENSP00000506739.1:n.2185+15374C>G
ENST00000683270.1:c.5456C>G ENSP00000507624.1:p.Thr1819Ser
ENST00000683367.1:c.2177-8927C>G ENSP00000507780.1:n.2177-8927C>G
ENST00000683489.1:c.2291+3174C>G ENSP00000508403.1:n.2291+3174C>G
ENST00000683680.1:c.2318+3174C>G ENSP00000507223.1:n.2318+3174C>G
ENST00000684163.1:c.2203+8400C>G ENSP00000508262.1:n.2203+8400C>G
ENST00000684196.1:n.4543-8927C>G
ENST00000684325.1:c.2185+15374C>G ENSP00000508121.1:n.2185+15374C>G
ENST00000684385.1:c.2220+8400C>G ENSP00000507855.1:n.2220+8400C>G
ENST00000684497.1:c.2185+15374C>G ENSP00000507057.1:n.2185+15374C>G
ENST00000382292.9:c.5465C>G MANE Select ENSP00000371729.3:p.Thr1822Ser
ENST00000423156.2:c.2186-8927C>G ENSP00000390925.2:n.2186-8927C>G
ENST00000455470.6:c.2431+3034C>G ENSP00000406565.2:n.2431+3034C>G
ENST00000382292.7:c.5465C>G ENSP00000371729.3:p.Thr1822Ser
ENST00000382298.7:c.5465C>G ENSP00000371735.3:p.Thr1822Ser
ENST00000402364.1:c.3215C>G ENSP00000385844.1:p.Thr1072Ser
ENST00000423156.1:c.1058-8927C>G ENSP00000390925.1:n.1058-8927C>G
ENST00000455470.5:c.2129+3034C>G
NM_001278055.1:c.5024C>G NP_001264984.1:p.Thr1675Ser
NM_014363.5:c.5465C>G NP_055178.3:p.Thr1822Ser
XM_005266338.1:c.5492C>G XP_005266395.1:p.Thr1831Ser
XM_011535038.1:c.5516C>G XP_011533340.1:p.Thr1839Ser
XM_011535039.1:c.5483C>G XP_011533341.1:p.Thr1828Ser
XM_005266338.2:c.5492C>G XP_005266395.1:p.Thr1831Ser
XM_011535039.2:c.5483C>G XP_011533341.1:p.Thr1828Ser
XM_017020539.1:c.5456C>G XP_016876028.1:p.Thr1819Ser
XM_024449337.1:c.5492C>G XP_024305105.1:p.Thr1831Ser
NM_014363.6:c.5465C>G MANE Select NP_055178.3:p.Thr1822Ser
NM_001278055.2:c.5024C>G NP_001264984.1:p.Thr1675Ser