Canonical Allele Identifier: CA387518629
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336257G>C , CM000675.2:g.23336257G>C GRCh38
NC_000013.10:g.23910396G>C , CM000675.1:g.23910396G>C GRCh37
NC_000013.9:g.22808396G>C NCBI36
NG_012342.1:g.102446C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17528C>G ENSP00000508399.1:n.2185+17528C>G
ENST00000682944.1:c.7646C>G ENSP00000507173.1:p.Pro2549Arg
ENST00000683210.1:c.2185+17528C>G ENSP00000506739.1:n.2185+17528C>G
ENST00000683270.1:c.6445+1165C>G ENSP00000507624.1:n.6445+1165C>G
ENST00000683367.1:c.2177-6773C>G ENSP00000507780.1:n.2177-6773C>G
ENST00000683489.1:c.2291+5328C>G ENSP00000508403.1:n.2291+5328C>G
ENST00000683680.1:c.2318+5328C>G ENSP00000507223.1:n.2318+5328C>G
ENST00000684163.1:c.2204-6773C>G ENSP00000508262.1:n.2204-6773C>G
ENST00000684196.1:n.4543-6773C>G
ENST00000684325.1:c.2186-14583C>G ENSP00000508121.1:n.2186-14583C>G
ENST00000684385.1:c.2221-6773C>G ENSP00000507855.1:n.2221-6773C>G
ENST00000684497.1:c.2186-13613C>G ENSP00000507057.1:n.2186-13613C>G
ENST00000382292.9:c.7619C>G MANE Select ENSP00000371729.3:p.Pro2540Arg
ENST00000423156.2:c.2186-6773C>G ENSP00000390925.2:n.2186-6773C>G
ENST00000455470.6:c.2431+5188C>G ENSP00000406565.2:n.2431+5188C>G
ENST00000382292.7:c.7619C>G ENSP00000371729.3:p.Pro2540Arg
ENST00000382298.7:c.7619C>G ENSP00000371735.3:p.Pro2540Arg
ENST00000402364.1:c.5369C>G ENSP00000385844.1:p.Pro1790Arg
ENST00000423156.1:c.1058-6773C>G ENSP00000390925.1:n.1058-6773C>G
ENST00000455470.5:c.2129+5188C>G
NM_001278055.1:c.7178C>G NP_001264984.1:p.Pro2393Arg
NM_014363.5:c.7619C>G NP_055178.3:p.Pro2540Arg
XM_005266338.1:c.7646C>G XP_005266395.1:p.Pro2549Arg
XM_011535038.1:c.7670C>G XP_011533340.1:p.Pro2557Arg
XM_011535039.1:c.7637C>G XP_011533341.1:p.Pro2546Arg
XM_005266338.2:c.7646C>G XP_005266395.1:p.Pro2549Arg
XM_011535039.2:c.7637C>G XP_011533341.1:p.Pro2546Arg
XM_017020539.1:c.7610C>G XP_016876028.1:p.Pro2537Arg
XM_024449337.1:c.7646C>G XP_024305105.1:p.Pro2549Arg
NM_014363.6:c.7619C>G MANE Select NP_055178.3:p.Pro2540Arg
NM_001278055.2:c.7178C>G NP_001264984.1:p.Pro2393Arg