Canonical Allele Identifier: CA387513148
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333860G>A , CM000675.2:g.23333860G>A GRCh38
NC_000013.10:g.23907999G>A , CM000675.1:g.23907999G>A GRCh37
NC_000013.9:g.22805999G>A NCBI36
NG_012342.1:g.104843C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19925C>T ENSP00000508399.1:n.2185+19925C>T
ENST00000682944.1:c.10043C>T ENSP00000507173.1:p.Ser3348Phe
ENST00000683210.1:c.2185+19925C>T ENSP00000506739.1:n.2185+19925C>T
ENST00000683270.1:c.6445+3562C>T ENSP00000507624.1:n.6445+3562C>T
ENST00000683367.1:c.2177-4376C>T ENSP00000507780.1:n.2177-4376C>T
ENST00000683489.1:c.2292-3908C>T ENSP00000508403.1:n.2292-3908C>T
ENST00000683680.1:c.2319-3908C>T ENSP00000507223.1:n.2319-3908C>T
ENST00000684163.1:c.2204-4376C>T ENSP00000508262.1:n.2204-4376C>T
ENST00000684196.1:n.4543-4376C>T
ENST00000684325.1:c.2186-12186C>T ENSP00000508121.1:n.2186-12186C>T
ENST00000684385.1:c.2221-4376C>T ENSP00000507855.1:n.2221-4376C>T
ENST00000684497.1:c.2186-11216C>T ENSP00000507057.1:n.2186-11216C>T
ENST00000382292.9:c.10016C>T MANE Select ENSP00000371729.3:p.Ser3339Phe
ENST00000423156.2:c.2186-4376C>T ENSP00000390925.2:n.2186-4376C>T
ENST00000455470.6:c.2432-4376C>T ENSP00000406565.2:n.2432-4376C>T
ENST00000382292.7:c.10016C>T ENSP00000371729.3:p.Ser3339Phe
ENST00000382298.7:c.10016C>T ENSP00000371735.3:p.Ser3339Phe
ENST00000402364.1:c.7766C>T ENSP00000385844.1:p.Ser2589Phe
ENST00000423156.1:c.1058-4376C>T ENSP00000390925.1:n.1058-4376C>T
ENST00000455470.5:c.2130-4376C>T
NM_001278055.1:c.9575C>T NP_001264984.1:p.Ser3192Phe
NM_014363.5:c.10016C>T NP_055178.3:p.Ser3339Phe
XM_005266338.1:c.10043C>T XP_005266395.1:p.Ser3348Phe
XM_011535038.1:c.10067C>T XP_011533340.1:p.Ser3356Phe
XM_011535039.1:c.10034C>T XP_011533341.1:p.Ser3345Phe
XM_005266338.2:c.10043C>T XP_005266395.1:p.Ser3348Phe
XM_011535039.2:c.10034C>T XP_011533341.1:p.Ser3345Phe
XM_017020539.1:c.10007C>T XP_016876028.1:p.Ser3336Phe
XM_024449337.1:c.10043C>T XP_024305105.1:p.Ser3348Phe
NM_014363.6:c.10016C>T MANE Select NP_055178.3:p.Ser3339Phe
NM_001278055.2:c.9575C>T NP_001264984.1:p.Ser3192Phe