Canonical Allele Identifier: CA387507630
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331386T>C , CM000675.2:g.23331386T>C GRCh38
NC_000013.10:g.23905525T>C , CM000675.1:g.23905525T>C GRCh37
NC_000013.9:g.22803525T>C NCBI36
NG_012342.1:g.107317A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-19271A>G ENSP00000508399.1:n.2186-19271A>G
ENST00000682944.1:c.12517A>G ENSP00000507173.1:p.Ile4173Val
ENST00000683210.1:c.2185+22399A>G ENSP00000506739.1:n.2185+22399A>G
ENST00000683270.1:c.6446-1902A>G ENSP00000507624.1:n.6446-1902A>G
ENST00000683367.1:c.2177-1902A>G ENSP00000507780.1:n.2177-1902A>G
ENST00000683489.1:c.2292-1434A>G ENSP00000508403.1:n.2292-1434A>G
ENST00000683680.1:c.2319-1434A>G ENSP00000507223.1:n.2319-1434A>G
ENST00000684163.1:c.2204-1902A>G ENSP00000508262.1:n.2204-1902A>G
ENST00000684196.1:n.4543-1902A>G
ENST00000684325.1:c.2186-9712A>G ENSP00000508121.1:n.2186-9712A>G
ENST00000684385.1:c.2221-1902A>G ENSP00000507855.1:n.2221-1902A>G
ENST00000684497.1:c.2186-8742A>G ENSP00000507057.1:n.2186-8742A>G
ENST00000382292.9:c.12490A>G MANE Select ENSP00000371729.3:p.Ile4164Val
ENST00000423156.2:c.2186-1902A>G ENSP00000390925.2:n.2186-1902A>G
ENST00000455470.6:c.2432-1902A>G ENSP00000406565.2:n.2432-1902A>G
ENST00000382292.7:c.12490A>G ENSP00000371729.3:p.Ile4164Val
ENST00000382298.7:c.12490A>G ENSP00000371735.3:p.Ile4164Val
ENST00000402364.1:c.10240A>G ENSP00000385844.1:p.Ile3414Val
ENST00000423156.1:c.1058-1902A>G ENSP00000390925.1:n.1058-1902A>G
ENST00000455470.5:c.2130-1902A>G
NM_001278055.1:c.12049A>G NP_001264984.1:p.Ile4017Val
NM_014363.5:c.12490A>G NP_055178.3:p.Ile4164Val
XM_005266338.1:c.12517A>G XP_005266395.1:p.Ile4173Val
XM_011535038.1:c.12541A>G XP_011533340.1:p.Ile4181Val
XM_011535039.1:c.12508A>G XP_011533341.1:p.Ile4170Val
XM_005266338.2:c.12517A>G XP_005266395.1:p.Ile4173Val
XM_011535039.2:c.12508A>G XP_011533341.1:p.Ile4170Val
XM_017020539.1:c.12481A>G XP_016876028.1:p.Ile4161Val
XM_024449337.1:c.12517A>G XP_024305105.1:p.Ile4173Val
NM_014363.6:c.12490A>G MANE Select NP_055178.3:p.Ile4164Val
NM_001278055.2:c.12049A>G NP_001264984.1:p.Ile4017Val