Canonical Allele Identifier: CA387513166
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333867T>A , CM000675.2:g.23333867T>A GRCh38
NC_000013.10:g.23908006T>A , CM000675.1:g.23908006T>A GRCh37
NC_000013.9:g.22806006T>A NCBI36
NG_012342.1:g.104836A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19918A>T ENSP00000508399.1:n.2185+19918A>T
ENST00000682944.1:c.10036A>T ENSP00000507173.1:p.Ile3346Phe
ENST00000683210.1:c.2185+19918A>T ENSP00000506739.1:n.2185+19918A>T
ENST00000683270.1:c.6445+3555A>T ENSP00000507624.1:n.6445+3555A>T
ENST00000683367.1:c.2177-4383A>T ENSP00000507780.1:n.2177-4383A>T
ENST00000683489.1:c.2292-3915A>T ENSP00000508403.1:n.2292-3915A>T
ENST00000683680.1:c.2319-3915A>T ENSP00000507223.1:n.2319-3915A>T
ENST00000684163.1:c.2204-4383A>T ENSP00000508262.1:n.2204-4383A>T
ENST00000684196.1:n.4543-4383A>T
ENST00000684325.1:c.2186-12193A>T ENSP00000508121.1:n.2186-12193A>T
ENST00000684385.1:c.2221-4383A>T ENSP00000507855.1:n.2221-4383A>T
ENST00000684497.1:c.2186-11223A>T ENSP00000507057.1:n.2186-11223A>T
ENST00000382292.9:c.10009A>T MANE Select ENSP00000371729.3:p.Ile3337Phe
ENST00000423156.2:c.2186-4383A>T ENSP00000390925.2:n.2186-4383A>T
ENST00000455470.6:c.2432-4383A>T ENSP00000406565.2:n.2432-4383A>T
ENST00000382292.7:c.10009A>T ENSP00000371729.3:p.Ile3337Phe
ENST00000382298.7:c.10009A>T ENSP00000371735.3:p.Ile3337Phe
ENST00000402364.1:c.7759A>T ENSP00000385844.1:p.Ile2587Phe
ENST00000423156.1:c.1058-4383A>T ENSP00000390925.1:n.1058-4383A>T
ENST00000455470.5:c.2130-4383A>T
NM_001278055.1:c.9568A>T NP_001264984.1:p.Ile3190Phe
NM_014363.5:c.10009A>T NP_055178.3:p.Ile3337Phe
XM_005266338.1:c.10036A>T XP_005266395.1:p.Ile3346Phe
XM_011535038.1:c.10060A>T XP_011533340.1:p.Ile3354Phe
XM_011535039.1:c.10027A>T XP_011533341.1:p.Ile3343Phe
XM_005266338.2:c.10036A>T XP_005266395.1:p.Ile3346Phe
XM_011535039.2:c.10027A>T XP_011533341.1:p.Ile3343Phe
XM_017020539.1:c.10000A>T XP_016876028.1:p.Ile3334Phe
XM_024449337.1:c.10036A>T XP_024305105.1:p.Ile3346Phe
NM_014363.6:c.10009A>T MANE Select NP_055178.3:p.Ile3337Phe
NM_001278055.2:c.9568A>T NP_001264984.1:p.Ile3190Phe