Canonical Allele Identifier: CA6910179
Community Standard Title: NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331746C>G , CM000675.2:g.23331746C>G GRCh38
NC_000013.10:g.23905885C>G , CM000675.1:g.23905885C>G GRCh37
NC_000013.9:g.22803885C>G NCBI36
NG_012342.1:g.106957G>C

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.12130G>C MANE Select NP_055178.3:p.Gly4044Arg
ENST00000382292.9:c.12130G>C MANE Select ENSP00000371729.3:p.Gly4044Arg
NM_001278055.1:c.11689G>C NP_001264984.1:p.Gly3897Arg
NM_001278055.2:c.11689G>C NP_001264984.1:p.Gly3897Arg
NM_014363.5:c.12130G>C NP_055178.3:p.Gly4044Arg
ENST00000382292.7:c.12130G>C ENSP00000371729.3:p.Gly4044Arg
ENST00000382298.7:c.12130G>C ENSP00000371735.3:p.Gly4044Arg
ENST00000402364.1:c.9880G>C ENSP00000385844.1:p.Gly3294Arg
ENST00000423156.1:c.1058-2262G>C ENSP00000390925.1:n.1058-2262G>C
ENST00000423156.2:c.2186-2262G>C ENSP00000390925.2:n.2186-2262G>C
ENST00000455470.5:c.2130-2262G>C
ENST00000455470.6:c.2432-2262G>C ENSP00000406565.2:n.2432-2262G>C
ENST00000682775.1:c.2186-19631G>C ENSP00000508399.1:n.2186-19631G>C
ENST00000682944.1:c.12157G>C ENSP00000507173.1:p.Gly4053Arg
ENST00000683210.1:c.2185+22039G>C ENSP00000506739.1:n.2185+22039G>C
ENST00000683270.1:c.6446-2262G>C ENSP00000507624.1:n.6446-2262G>C
ENST00000683367.1:c.2177-2262G>C ENSP00000507780.1:n.2177-2262G>C
ENST00000683489.1:c.2292-1794G>C ENSP00000508403.1:n.2292-1794G>C
ENST00000683680.1:c.2319-1794G>C ENSP00000507223.1:n.2319-1794G>C
ENST00000684163.1:c.2204-2262G>C ENSP00000508262.1:n.2204-2262G>C
ENST00000684196.1:n.4543-2262G>C
ENST00000684325.1:c.2186-10072G>C ENSP00000508121.1:n.2186-10072G>C
ENST00000684385.1:c.2221-2262G>C ENSP00000507855.1:n.2221-2262G>C
ENST00000684497.1:c.2186-9102G>C ENSP00000507057.1:n.2186-9102G>C
XM_005266338.1:c.12157G>C XP_005266395.1:p.Gly4053Arg
XM_005266338.2:c.12157G>C XP_005266395.1:p.Gly4053Arg
XM_011535038.1:c.12181G>C XP_011533340.1:p.Gly4061Arg
XM_011535039.1:c.12148G>C XP_011533341.1:p.Gly4050Arg
XM_011535039.2:c.12148G>C XP_011533341.1:p.Gly4050Arg
XM_017020539.1:c.12121G>C XP_016876028.1:p.Gly4041Arg
XM_024449337.1:c.12157G>C XP_024305105.1:p.Gly4053Arg