Canonical Allele Identifier: CA16041648
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371456
ClinVar RCV Id: RCV000412381
dbSNP Id: rs1057517285

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341652G>A , CM000675.2:g.23341652G>A GRCh38
NC_000013.10:g.23915791G>A , CM000675.1:g.23915791G>A GRCh37
NC_000013.9:g.22813791G>A NCBI36
NG_012342.1:g.97051C>T

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.1783C>T VV NP_001264984.1:p.Arg595Ter
NM_014363.5:c.2224C>T VV NP_055178.3:p.Arg742Ter
XM_005266338.1:c.2251C>T XP_005266395.1:p.Arg751Ter
XM_011535038.1:c.2275C>T XP_011533340.1:p.Arg759Ter
XM_011535039.1:c.2242C>T XP_011533341.1:p.Arg748Ter
XM_005266338.2:c.2251C>T
XM_011535039.2:c.2242C>T
XM_017020539.1:c.2215C>T XP_016876028.1:p.Arg739Ter
XM_024449337.1:c.2251C>T XP_024305105.1:p.Arg751Ter
ENST00000382292.7:c.2224C>T ENSP00000371729.3:p.Arg742Ter
ENST00000382298.7:c.2224C>T ENSP00000371735.3:p.Arg742Ter
ENST00000402364.1:c.-27C>T ENSP00000385844.1:p.=
ENST00000423156.1:n.1057+12133C>T ENSP00000390925.1:p.=
ENST00000455470.5:n.1922C>T