Canonical Allele Identifier: CA16041639
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370803
ClinVar RCV Id: RCV000412449
dbSNP Id: rs1057516779

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339781C>T , CM000675.2:g.23339781C>T GRCh38
NC_000013.10:g.23913920C>T , CM000675.1:g.23913920C>T GRCh37
NC_000013.9:g.22811920C>T NCBI36
NG_012342.1:g.98922G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.4095G>A MANE Select ENSP00000371729.3:p.Trp1365Ter
ENST00000423156.2:c.2186-10297G>A ENSP00000390925.2:p.=
ENST00000455470.6:c.2431+1664G>A ENSP00000406565.2:p.=
ENST00000382292.7:c.4095G>A ENSP00000371729.3:p.Trp1365Ter
ENST00000382298.7:c.4095G>A ENSP00000371735.3:p.Trp1365Ter
ENST00000402364.1:c.1845G>A ENSP00000385844.1:p.Trp615Ter
ENST00000423156.1:n.1058-10297G>A ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+1664G>A
NM_001278055.1:c.3654G>A NP_001264984.1:p.Trp1218Ter
NM_014363.5:c.4095G>A NP_055178.3:p.Trp1365Ter
XM_005266338.1:c.4122G>A XP_005266395.1:p.Trp1374Ter
XM_011535038.1:c.4146G>A XP_011533340.1:p.Trp1382Ter
XM_011535039.1:c.4113G>A XP_011533341.1:p.Trp1371Ter
XM_005266338.2:c.4122G>A XP_005266395.1:p.Trp1374Ter
XM_011535039.2:c.4113G>A XP_011533341.1:p.Trp1371Ter
XM_017020539.1:c.4086G>A XP_016876028.1:p.Trp1362Ter
XM_024449337.1:c.4122G>A XP_024305105.1:p.Trp1374Ter
NM_014363.6:c.4095G>A MANE Select NP_055178.3:p.Trp1365Ter
NM_001278055.2:c.3654G>A NP_001264984.1:p.Trp1218Ter