Canonical Allele Identifier: CA387510686
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs1177654572

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332754G>C , CM000675.2:g.23332754G>C GRCh38
NC_000013.10:g.23906893G>C , CM000675.1:g.23906893G>C GRCh37
NC_000013.9:g.22804893G>C NCBI36
NG_012342.1:g.105949C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-20639C>G ENSP00000508399.1:n.2186-20639C>G
ENST00000682944.1:c.11149C>G ENSP00000507173.1:p.Pro3717Ala
ENST00000683210.1:c.2185+21031C>G ENSP00000506739.1:n.2185+21031C>G
ENST00000683270.1:c.6446-3270C>G ENSP00000507624.1:n.6446-3270C>G
ENST00000683367.1:c.2177-3270C>G ENSP00000507780.1:n.2177-3270C>G
ENST00000683489.1:c.2292-2802C>G ENSP00000508403.1:n.2292-2802C>G
ENST00000683680.1:c.2319-2802C>G ENSP00000507223.1:n.2319-2802C>G
ENST00000684163.1:c.2204-3270C>G ENSP00000508262.1:n.2204-3270C>G
ENST00000684196.1:n.4543-3270C>G
ENST00000684325.1:c.2186-11080C>G ENSP00000508121.1:n.2186-11080C>G
ENST00000684385.1:c.2221-3270C>G ENSP00000507855.1:n.2221-3270C>G
ENST00000684497.1:c.2186-10110C>G ENSP00000507057.1:n.2186-10110C>G
ENST00000382292.9:c.11122C>G MANE Select ENSP00000371729.3:p.Pro3708Ala
ENST00000423156.2:c.2186-3270C>G ENSP00000390925.2:n.2186-3270C>G
ENST00000455470.6:c.2432-3270C>G ENSP00000406565.2:n.2432-3270C>G
ENST00000382292.7:c.11122C>G ENSP00000371729.3:p.Pro3708Ala
ENST00000382298.7:c.11122C>G ENSP00000371735.3:p.Pro3708Ala
ENST00000402364.1:c.8872C>G ENSP00000385844.1:p.Pro2958Ala
ENST00000423156.1:c.1058-3270C>G ENSP00000390925.1:n.1058-3270C>G
ENST00000455470.5:c.2130-3270C>G
NM_001278055.1:c.10681C>G NP_001264984.1:p.Pro3561Ala
NM_014363.5:c.11122C>G NP_055178.3:p.Pro3708Ala
XM_005266338.1:c.11149C>G XP_005266395.1:p.Pro3717Ala
XM_011535038.1:c.11173C>G XP_011533340.1:p.Pro3725Ala
XM_011535039.1:c.11140C>G XP_011533341.1:p.Pro3714Ala
XM_005266338.2:c.11149C>G XP_005266395.1:p.Pro3717Ala
XM_011535039.2:c.11140C>G XP_011533341.1:p.Pro3714Ala
XM_017020539.1:c.11113C>G XP_016876028.1:p.Pro3705Ala
XM_024449337.1:c.11149C>G XP_024305105.1:p.Pro3717Ala
NM_014363.6:c.11122C>G MANE Select NP_055178.3:p.Pro3708Ala
NM_001278055.2:c.10681C>G NP_001264984.1:p.Pro3561Ala