Canonical Allele Identifier: CA6910318
Community Standard Title: NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332627T>C , CM000675.2:g.23332627T>C GRCh38
NC_000013.10:g.23906766T>C , CM000675.1:g.23906766T>C GRCh37
NC_000013.9:g.22804766T>C NCBI36
NG_012342.1:g.106076A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.11249A>G MANE Select NP_055178.3:p.Asn3750Ser
ENST00000382292.9:c.11249A>G MANE Select ENSP00000371729.3:p.Asn3750Ser
NM_001278055.1:c.10808A>G NP_001264984.1:p.Asn3603Ser
NM_001278055.2:c.10808A>G NP_001264984.1:p.Asn3603Ser
NM_014363.5:c.11249A>G NP_055178.3:p.Asn3750Ser
ENST00000382292.7:c.11249A>G ENSP00000371729.3:p.Asn3750Ser
ENST00000382298.7:c.11249A>G ENSP00000371735.3:p.Asn3750Ser
ENST00000402364.1:c.8999A>G ENSP00000385844.1:p.Asn3000Ser
ENST00000423156.1:c.1058-3143A>G ENSP00000390925.1:n.1058-3143A>G
ENST00000423156.2:c.2186-3143A>G ENSP00000390925.2:n.2186-3143A>G
ENST00000455470.5:c.2130-3143A>G
ENST00000455470.6:c.2432-3143A>G ENSP00000406565.2:n.2432-3143A>G
ENST00000682775.1:c.2186-20512A>G ENSP00000508399.1:n.2186-20512A>G
ENST00000682944.1:c.11276A>G ENSP00000507173.1:p.Asn3759Ser
ENST00000683210.1:c.2185+21158A>G ENSP00000506739.1:n.2185+21158A>G
ENST00000683270.1:c.6446-3143A>G ENSP00000507624.1:n.6446-3143A>G
ENST00000683367.1:c.2177-3143A>G ENSP00000507780.1:n.2177-3143A>G
ENST00000683489.1:c.2292-2675A>G ENSP00000508403.1:n.2292-2675A>G
ENST00000683680.1:c.2319-2675A>G ENSP00000507223.1:n.2319-2675A>G
ENST00000684163.1:c.2204-3143A>G ENSP00000508262.1:n.2204-3143A>G
ENST00000684196.1:n.4543-3143A>G
ENST00000684325.1:c.2186-10953A>G ENSP00000508121.1:n.2186-10953A>G
ENST00000684385.1:c.2221-3143A>G ENSP00000507855.1:n.2221-3143A>G
ENST00000684497.1:c.2186-9983A>G ENSP00000507057.1:n.2186-9983A>G
XM_005266338.1:c.11276A>G XP_005266395.1:p.Asn3759Ser
XM_005266338.2:c.11276A>G XP_005266395.1:p.Asn3759Ser
XM_011535038.1:c.11300A>G XP_011533340.1:p.Asn3767Ser
XM_011535039.1:c.11267A>G XP_011533341.1:p.Asn3756Ser
XM_011535039.2:c.11267A>G XP_011533341.1:p.Asn3756Ser
XM_017020539.1:c.11240A>G XP_016876028.1:p.Asn3747Ser
XM_024449337.1:c.11276A>G XP_024305105.1:p.Asn3759Ser