Canonical Allele Identifier: CA387506203
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330864G>C , CM000675.2:g.23330864G>C GRCh38
NC_000013.10:g.23905003G>C , CM000675.1:g.23905003G>C GRCh37
NC_000013.9:g.22803003G>C NCBI36
NG_012342.1:g.107839C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18749C>G ENSP00000508399.1:n.2186-18749C>G
ENST00000682944.1:c.13039C>G ENSP00000507173.1:p.Pro4347Ala
ENST00000683210.1:c.2185+22921C>G ENSP00000506739.1:n.2185+22921C>G
ENST00000683270.1:c.6446-1380C>G ENSP00000507624.1:n.6446-1380C>G
ENST00000683367.1:c.2177-1380C>G ENSP00000507780.1:n.2177-1380C>G
ENST00000683489.1:c.2292-912C>G ENSP00000508403.1:n.2292-912C>G
ENST00000683680.1:c.2319-912C>G ENSP00000507223.1:n.2319-912C>G
ENST00000684163.1:c.2204-1380C>G ENSP00000508262.1:n.2204-1380C>G
ENST00000684196.1:n.4543-1380C>G
ENST00000684325.1:c.2186-9190C>G ENSP00000508121.1:n.2186-9190C>G
ENST00000684385.1:c.2221-1380C>G ENSP00000507855.1:n.2221-1380C>G
ENST00000684497.1:c.2186-8220C>G ENSP00000507057.1:n.2186-8220C>G
ENST00000382292.9:c.13012C>G MANE Select ENSP00000371729.3:p.Pro4338Ala
ENST00000423156.2:c.2186-1380C>G ENSP00000390925.2:n.2186-1380C>G
ENST00000455470.6:c.2432-1380C>G ENSP00000406565.2:n.2432-1380C>G
ENST00000382292.7:c.13012C>G ENSP00000371729.3:p.Pro4338Ala
ENST00000382298.7:c.13012C>G ENSP00000371735.3:p.Pro4338Ala
ENST00000402364.1:c.10762C>G ENSP00000385844.1:p.Pro3588Ala
ENST00000423156.1:c.1058-1380C>G ENSP00000390925.1:n.1058-1380C>G
ENST00000455470.5:c.2130-1380C>G
NM_001278055.1:c.12571C>G NP_001264984.1:p.Pro4191Ala
NM_014363.5:c.13012C>G NP_055178.3:p.Pro4338Ala
XM_005266338.1:c.13039C>G XP_005266395.1:p.Pro4347Ala
XM_011535038.1:c.13063C>G XP_011533340.1:p.Pro4355Ala
XM_011535039.1:c.13030C>G XP_011533341.1:p.Pro4344Ala
XM_005266338.2:c.13039C>G XP_005266395.1:p.Pro4347Ala
XM_011535039.2:c.13030C>G XP_011533341.1:p.Pro4344Ala
XM_017020539.1:c.13003C>G XP_016876028.1:p.Pro4335Ala
XM_024449337.1:c.13039C>G XP_024305105.1:p.Pro4347Ala
NM_014363.6:c.13012C>G MANE Select NP_055178.3:p.Pro4338Ala
NM_001278055.2:c.12571C>G NP_001264984.1:p.Pro4191Ala