Canonical Allele Identifier: CA16041631
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371312
ClinVar RCV Id: RCV000409004
dbSNP Id: rs1057517172

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338407G>T , CM000675.2:g.23338407G>T GRCh38
NC_000013.10:g.23912546G>T , CM000675.1:g.23912546G>T GRCh37
NC_000013.9:g.22810546G>T NCBI36
NG_012342.1:g.100296C>A

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.5028C>A VV NP_001264984.1:p.Cys1676Ter
NM_014363.5:c.5469C>A VV NP_055178.3:p.Cys1823Ter
XM_005266338.1:c.5496C>A XP_005266395.1:p.Cys1832Ter
XM_011535038.1:c.5520C>A XP_011533340.1:p.Cys1840Ter
XM_011535039.1:c.5487C>A XP_011533341.1:p.Cys1829Ter
XM_005266338.2:c.5496C>A
XM_011535039.2:c.5487C>A
XM_017020539.1:c.5460C>A XP_016876028.1:p.Cys1820Ter
XM_024449337.1:c.5496C>A XP_024305105.1:p.Cys1832Ter
NM_014363.6:c.5469C>A VV MANE Preferred
ENST00000382292.7:c.5469C>A ENSP00000371729.3:p.Cys1823Ter
ENST00000382298.7:c.5469C>A ENSP00000371735.3:p.Cys1823Ter
ENST00000402364.1:c.3219C>A ENSP00000385844.1:p.Cys1073Ter
ENST00000423156.1:n.1058-8923C>A ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+3038C>A