Canonical Allele Identifier: CA6910830
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311521
dbSNP Id: rs34928783

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23335854A>C , CM000675.2:g.23335854A>C GRCh38
NC_000013.10:g.23909993A>C , CM000675.1:g.23909993A>C GRCh37
NC_000013.9:g.22807993A>C NCBI36
NG_012342.1:g.102849T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.8022T>G MANE Select ENSP00000371729.3:p.Phe2674Leu
ENST00000423156.2:c.2186-6370T>G ENSP00000390925.2:p.=
ENST00000455470.6:c.2431+5591T>G ENSP00000406565.2:p.=
ENST00000382292.7:c.8022T>G ENSP00000371729.3:p.Phe2674Leu
ENST00000382298.7:c.8022T>G ENSP00000371735.3:p.Phe2674Leu
ENST00000402364.1:c.5772T>G ENSP00000385844.1:p.Phe1924Leu
ENST00000423156.1:n.1058-6370T>G ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+5591T>G
NM_001278055.1:c.7581T>G NP_001264984.1:p.Phe2527Leu
NM_014363.5:c.8022T>G NP_055178.3:p.Phe2674Leu
XM_005266338.1:c.8049T>G XP_005266395.1:p.Phe2683Leu
XM_011535038.1:c.8073T>G XP_011533340.1:p.Phe2691Leu
XM_011535039.1:c.8040T>G XP_011533341.1:p.Phe2680Leu
XM_005266338.2:c.8049T>G XP_005266395.1:p.Phe2683Leu
XM_011535039.2:c.8040T>G XP_011533341.1:p.Phe2680Leu
XM_017020539.1:c.8013T>G XP_016876028.1:p.Phe2671Leu
XM_024449337.1:c.8049T>G XP_024305105.1:p.Phe2683Leu
NM_014363.6:c.8022T>G MANE Select NP_055178.3:p.Phe2674Leu
NM_001278055.2:c.7581T>G NP_001264984.1:p.Phe2527Leu