Canonical Allele Identifier: CA387525621
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs754748296

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338418G>C , CM000675.2:g.23338418G>C GRCh38
NC_000013.10:g.23912557G>C , CM000675.1:g.23912557G>C GRCh37
NC_000013.9:g.22810557G>C NCBI36
NG_012342.1:g.100285C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+15367C>G ENSP00000508399.1:n.2185+15367C>G
ENST00000682944.1:c.5485C>G ENSP00000507173.1:p.Leu1829Val
ENST00000683210.1:c.2185+15367C>G ENSP00000506739.1:n.2185+15367C>G
ENST00000683270.1:c.5449C>G ENSP00000507624.1:p.Leu1817Val
ENST00000683367.1:c.2177-8934C>G ENSP00000507780.1:n.2177-8934C>G
ENST00000683489.1:c.2291+3167C>G ENSP00000508403.1:n.2291+3167C>G
ENST00000683680.1:c.2318+3167C>G ENSP00000507223.1:n.2318+3167C>G
ENST00000684163.1:c.2203+8393C>G ENSP00000508262.1:n.2203+8393C>G
ENST00000684196.1:n.4543-8934C>G
ENST00000684325.1:c.2185+15367C>G ENSP00000508121.1:n.2185+15367C>G
ENST00000684385.1:c.2220+8393C>G ENSP00000507855.1:n.2220+8393C>G
ENST00000684497.1:c.2185+15367C>G ENSP00000507057.1:n.2185+15367C>G
ENST00000382292.9:c.5458C>G MANE Select ENSP00000371729.3:p.Leu1820Val
ENST00000423156.2:c.2186-8934C>G ENSP00000390925.2:n.2186-8934C>G
ENST00000455470.6:c.2431+3027C>G ENSP00000406565.2:n.2431+3027C>G
ENST00000382292.7:c.5458C>G ENSP00000371729.3:p.Leu1820Val
ENST00000382298.7:c.5458C>G ENSP00000371735.3:p.Leu1820Val
ENST00000402364.1:c.3208C>G ENSP00000385844.1:p.Leu1070Val
ENST00000423156.1:c.1058-8934C>G ENSP00000390925.1:n.1058-8934C>G
ENST00000455470.5:c.2129+3027C>G
NM_001278055.1:c.5017C>G NP_001264984.1:p.Leu1673Val
NM_014363.5:c.5458C>G NP_055178.3:p.Leu1820Val
XM_005266338.1:c.5485C>G XP_005266395.1:p.Leu1829Val
XM_011535038.1:c.5509C>G XP_011533340.1:p.Leu1837Val
XM_011535039.1:c.5476C>G XP_011533341.1:p.Leu1826Val
XM_005266338.2:c.5485C>G XP_005266395.1:p.Leu1829Val
XM_011535039.2:c.5476C>G XP_011533341.1:p.Leu1826Val
XM_017020539.1:c.5449C>G XP_016876028.1:p.Leu1817Val
XM_024449337.1:c.5485C>G XP_024305105.1:p.Leu1829Val
NM_014363.6:c.5458C>G MANE Select NP_055178.3:p.Leu1820Val
NM_001278055.2:c.5017C>G NP_001264984.1:p.Leu1673Val