Canonical Allele Identifier: CA387518938
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336387C>A , CM000675.2:g.23336387C>A GRCh38
NC_000013.10:g.23910526C>A , CM000675.1:g.23910526C>A GRCh37
NC_000013.9:g.22808526C>A NCBI36
NG_012342.1:g.102316G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17398G>T ENSP00000508399.1:n.2185+17398G>T
ENST00000682944.1:c.7516G>T ENSP00000507173.1:p.Gly2506Ter
ENST00000683210.1:c.2185+17398G>T ENSP00000506739.1:n.2185+17398G>T
ENST00000683270.1:c.6445+1035G>T ENSP00000507624.1:n.6445+1035G>T
ENST00000683367.1:c.2177-6903G>T ENSP00000507780.1:n.2177-6903G>T
ENST00000683489.1:c.2291+5198G>T ENSP00000508403.1:n.2291+5198G>T
ENST00000683680.1:c.2318+5198G>T ENSP00000507223.1:n.2318+5198G>T
ENST00000684163.1:c.2204-6903G>T ENSP00000508262.1:n.2204-6903G>T
ENST00000684196.1:n.4543-6903G>T
ENST00000684325.1:c.2186-14713G>T ENSP00000508121.1:n.2186-14713G>T
ENST00000684385.1:c.2221-6903G>T ENSP00000507855.1:n.2221-6903G>T
ENST00000684497.1:c.2186-13743G>T ENSP00000507057.1:n.2186-13743G>T
ENST00000382292.9:c.7489G>T MANE Select ENSP00000371729.3:p.Gly2497Ter
ENST00000423156.2:c.2186-6903G>T ENSP00000390925.2:n.2186-6903G>T
ENST00000455470.6:c.2431+5058G>T ENSP00000406565.2:n.2431+5058G>T
ENST00000382292.7:c.7489G>T ENSP00000371729.3:p.Gly2497Ter
ENST00000382298.7:c.7489G>T ENSP00000371735.3:p.Gly2497Ter
ENST00000402364.1:c.5239G>T ENSP00000385844.1:p.Gly1747Ter
ENST00000423156.1:c.1058-6903G>T ENSP00000390925.1:n.1058-6903G>T
ENST00000455470.5:c.2129+5058G>T
NM_001278055.1:c.7048G>T NP_001264984.1:p.Gly2350Ter
NM_014363.5:c.7489G>T NP_055178.3:p.Gly2497Ter
XM_005266338.1:c.7516G>T XP_005266395.1:p.Gly2506Ter
XM_011535038.1:c.7540G>T XP_011533340.1:p.Gly2514Ter
XM_011535039.1:c.7507G>T XP_011533341.1:p.Gly2503Ter
XM_005266338.2:c.7516G>T XP_005266395.1:p.Gly2506Ter
XM_011535039.2:c.7507G>T XP_011533341.1:p.Gly2503Ter
XM_017020539.1:c.7480G>T XP_016876028.1:p.Gly2494Ter
XM_024449337.1:c.7516G>T XP_024305105.1:p.Gly2506Ter
NM_014363.6:c.7489G>T MANE Select NP_055178.3:p.Gly2497Ter
NM_001278055.2:c.7048G>T NP_001264984.1:p.Gly2350Ter