Canonical Allele Identifier: CA387527954
Community Standard Title: NM_014363.6(SACS):c.4718T>G (p.Met1573Arg)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339158A>C , CM000675.2:g.23339158A>C GRCh38
NC_000013.10:g.23913297A>C , CM000675.1:g.23913297A>C GRCh37
NC_000013.9:g.22811297A>C NCBI36
NG_012342.1:g.99545T>G

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.4718T>G MANE Select NP_055178.3:p.Met1573Arg
ENST00000382292.9:c.4718T>G MANE Select ENSP00000371729.3:p.Met1573Arg
NM_001278055.1:c.4277T>G NP_001264984.1:p.Met1426Arg
NM_001278055.2:c.4277T>G NP_001264984.1:p.Met1426Arg
NM_014363.5:c.4718T>G NP_055178.3:p.Met1573Arg
ENST00000382292.7:c.4718T>G ENSP00000371729.3:p.Met1573Arg
ENST00000382298.7:c.4718T>G ENSP00000371735.3:p.Met1573Arg
ENST00000402364.1:c.2468T>G ENSP00000385844.1:p.Met823Arg
ENST00000423156.1:c.1058-9674T>G ENSP00000390925.1:n.1058-9674T>G
ENST00000423156.2:c.2186-9674T>G ENSP00000390925.2:n.2186-9674T>G
ENST00000455470.5:c.2129+2287T>G
ENST00000455470.6:c.2431+2287T>G ENSP00000406565.2:n.2431+2287T>G
ENST00000682775.1:c.2185+14627T>G ENSP00000508399.1:n.2185+14627T>G
ENST00000682944.1:c.4745T>G ENSP00000507173.1:p.Met1582Arg
ENST00000683210.1:c.2185+14627T>G ENSP00000506739.1:n.2185+14627T>G
ENST00000683270.1:c.4709T>G ENSP00000507624.1:p.Met1570Arg
ENST00000683367.1:c.2177-9674T>G ENSP00000507780.1:n.2177-9674T>G
ENST00000683489.1:c.2291+2427T>G ENSP00000508403.1:n.2291+2427T>G
ENST00000683680.1:c.2318+2427T>G ENSP00000507223.1:n.2318+2427T>G
ENST00000684163.1:c.2203+7653T>G ENSP00000508262.1:n.2203+7653T>G
ENST00000684196.1:n.4543-9674T>G
ENST00000684325.1:c.2185+14627T>G ENSP00000508121.1:n.2185+14627T>G
ENST00000684385.1:c.2220+7653T>G ENSP00000507855.1:n.2220+7653T>G
ENST00000684497.1:c.2185+14627T>G ENSP00000507057.1:n.2185+14627T>G
XM_005266338.1:c.4745T>G XP_005266395.1:p.Met1582Arg
XM_005266338.2:c.4745T>G XP_005266395.1:p.Met1582Arg
XM_011535038.1:c.4769T>G XP_011533340.1:p.Met1590Arg
XM_011535039.1:c.4736T>G XP_011533341.1:p.Met1579Arg
XM_011535039.2:c.4736T>G XP_011533341.1:p.Met1579Arg
XM_017020539.1:c.4709T>G XP_016876028.1:p.Met1570Arg
XM_024449337.1:c.4745T>G XP_024305105.1:p.Met1582Arg