Canonical Allele Identifier: CA6910050
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs766896799

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330960T>C , CM000675.2:g.23330960T>C GRCh38
NC_000013.10:g.23905099T>C , CM000675.1:g.23905099T>C GRCh37
NC_000013.9:g.22803099T>C NCBI36
NG_012342.1:g.107743A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.12916A>G MANE Select ENSP00000371729.3:p.Ile4306Val
ENST00000423156.2:c.2186-1476A>G ENSP00000390925.2:p.=
ENST00000455470.6:c.2432-1476A>G ENSP00000406565.2:p.=
ENST00000382292.7:c.12916A>G ENSP00000371729.3:p.Ile4306Val
ENST00000382298.7:c.12916A>G ENSP00000371735.3:p.Ile4306Val
ENST00000402364.1:c.10666A>G ENSP00000385844.1:p.Ile3556Val
ENST00000423156.1:n.1058-1476A>G ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-1476A>G
NM_001278055.1:c.12475A>G NP_001264984.1:p.Ile4159Val
NM_014363.5:c.12916A>G NP_055178.3:p.Ile4306Val
XM_005266338.1:c.12943A>G XP_005266395.1:p.Ile4315Val
XM_011535038.1:c.12967A>G XP_011533340.1:p.Ile4323Val
XM_011535039.1:c.12934A>G XP_011533341.1:p.Ile4312Val
XM_005266338.2:c.12943A>G XP_005266395.1:p.Ile4315Val
XM_011535039.2:c.12934A>G XP_011533341.1:p.Ile4312Val
XM_017020539.1:c.12907A>G XP_016876028.1:p.Ile4303Val
XM_024449337.1:c.12943A>G XP_024305105.1:p.Ile4315Val
NM_014363.6:c.12916A>G MANE Select NP_055178.3:p.Ile4306Val
NM_001278055.2:c.12475A>G NP_001264984.1:p.Ile4159Val