Canonical Allele Identifier: CA6911660
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 458260
dbSNP Id: rs774682589

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341277A>G , CM000675.2:g.23341277A>G GRCh38
NC_000013.10:g.23915416A>G , CM000675.1:g.23915416A>G GRCh37
NC_000013.9:g.22813416A>G NCBI36
NG_012342.1:g.97426T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.2599T>C MANE Select ENSP00000371729.3:p.Tyr867His
ENST00000423156.2:c.2186-11793T>C ENSP00000390925.2:p.=
ENST00000455470.6:c.2431+168T>C ENSP00000406565.2:p.=
ENST00000382292.7:c.2599T>C ENSP00000371729.3:p.Tyr867His
ENST00000382298.7:c.2599T>C ENSP00000371735.3:p.Tyr867His
ENST00000402364.1:c.349T>C ENSP00000385844.1:p.Tyr117His
ENST00000423156.1:n.1058-11793T>C ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+168T>C
NM_001278055.1:c.2158T>C NP_001264984.1:p.Tyr720His
NM_014363.5:c.2599T>C NP_055178.3:p.Tyr867His
XM_005266338.1:c.2626T>C XP_005266395.1:p.Tyr876His
XM_011535038.1:c.2650T>C XP_011533340.1:p.Tyr884His
XM_011535039.1:c.2617T>C XP_011533341.1:p.Tyr873His
XM_005266338.2:c.2626T>C XP_005266395.1:p.Tyr876His
XM_011535039.2:c.2617T>C XP_011533341.1:p.Tyr873His
XM_017020539.1:c.2590T>C XP_016876028.1:p.Tyr864His
XM_024449337.1:c.2626T>C XP_024305105.1:p.Tyr876His
NM_014363.6:c.2599T>C MANE Select NP_055178.3:p.Tyr867His
NM_001278055.2:c.2158T>C NP_001264984.1:p.Tyr720His