Canonical Allele Identifier: CA6911942
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 501595
ClinVar RCV Id: RCV000596432
dbSNP Id: rs767818359

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23355357T>C , CM000675.2:g.23355357T>C GRCh38
NC_000013.10:g.23929496T>C , CM000675.1:g.23929496T>C GRCh37
NC_000013.9:g.22827496T>C NCBI36
NG_012342.1:g.83346A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.1255A>G MANE Select ENSP00000371729.3:p.Ile419Val
ENST00000423156.2:c.1255A>G ENSP00000390925.2:p.Ile419Val
ENST00000455470.6:c.1255A>G ENSP00000406565.2:p.Ile419Val
ENST00000382292.7:c.1255A>G ENSP00000371729.3:p.Ile419Val
ENST00000382298.7:c.1255A>G ENSP00000371735.3:p.Ile419Val
ENST00000402364.1:c.-996A>G ENSP00000385844.1:p.=
ENST00000423156.1:n.127A>G ENSP00000390925.1:p.Ile43Val
ENST00000455470.5:n.953A>G
NM_001278055.1:c.814A>G NP_001264984.1:p.Ile272Val
NM_014363.5:c.1255A>G NP_055178.3:p.Ile419Val
XM_005266338.1:c.1255A>G XP_005266395.1:p.Ile419Val
XM_011535038.1:c.1279A>G XP_011533340.1:p.Ile427Val
XM_011535039.1:c.1246A>G XP_011533341.1:p.Ile416Val
XM_005266338.2:c.1255A>G XP_005266395.1:p.Ile419Val
XM_011535039.2:c.1246A>G XP_011533341.1:p.Ile416Val
XM_017020539.1:c.1246A>G XP_016876028.1:p.Ile416Val
XM_024449337.1:c.1255A>G XP_024305105.1:p.Ile419Val
NM_014363.6:c.1255A>G MANE Select NP_055178.3:p.Ile419Val
NM_001278055.2:c.814A>G NP_001264984.1:p.Ile272Val