Canonical Allele Identifier: CA6909977
Community Standard Title: NM_014363.6(SACS):c.13344C>T (p.Arg4448=)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330532G>A , CM000675.2:g.23330532G>A GRCh38
NC_000013.10:g.23904671G>A , CM000675.1:g.23904671G>A GRCh37
NC_000013.9:g.22802671G>A NCBI36
NG_012342.1:g.108171C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.13344C>T MANE Select NP_055178.3:p.Arg4448=
ENST00000382292.9:c.13344C>T MANE Select ENSP00000371729.3:p.Arg4448=
NM_001278055.1:c.12903C>T NP_001264984.1:p.Arg4301=
NM_001278055.2:c.12903C>T NP_001264984.1:p.Arg4301=
NM_014363.5:c.13344C>T NP_055178.3:p.Arg4448=
ENST00000382292.7:c.13344C>T ENSP00000371729.3:p.Arg4448=
ENST00000382298.7:c.13344C>T ENSP00000371735.3:p.Arg4448=
ENST00000402364.1:c.11094C>T ENSP00000385844.1:p.Arg3698=
ENST00000423156.1:c.1058-1048C>T ENSP00000390925.1:n.1058-1048C>T
ENST00000423156.2:c.2186-1048C>T ENSP00000390925.2:n.2186-1048C>T
ENST00000455470.5:c.2130-1048C>T
ENST00000455470.6:c.2432-1048C>T ENSP00000406565.2:n.2432-1048C>T
ENST00000682775.1:c.2186-18417C>T ENSP00000508399.1:n.2186-18417C>T
ENST00000682944.1:c.13371C>T ENSP00000507173.1:p.Arg4457=
ENST00000683210.1:c.2185+23253C>T ENSP00000506739.1:n.2185+23253C>T
ENST00000683270.1:c.6446-1048C>T ENSP00000507624.1:n.6446-1048C>T
ENST00000683367.1:c.2177-1048C>T ENSP00000507780.1:n.2177-1048C>T
ENST00000683489.1:c.2292-580C>T ENSP00000508403.1:n.2292-580C>T
ENST00000683680.1:c.2319-580C>T ENSP00000507223.1:n.2319-580C>T
ENST00000684163.1:c.2204-1048C>T ENSP00000508262.1:n.2204-1048C>T
ENST00000684196.1:n.4543-1048C>T
ENST00000684325.1:c.2186-8858C>T ENSP00000508121.1:n.2186-8858C>T
ENST00000684385.1:c.2221-1048C>T ENSP00000507855.1:n.2221-1048C>T
ENST00000684497.1:c.2186-7888C>T ENSP00000507057.1:n.2186-7888C>T
XM_005266338.1:c.13371C>T XP_005266395.1:p.Arg4457=
XM_005266338.2:c.13371C>T XP_005266395.1:p.Arg4457=
XM_011535038.1:c.13395C>T XP_011533340.1:p.Arg4465=
XM_011535039.1:c.13362C>T XP_011533341.1:p.Arg4454=
XM_011535039.2:c.13362C>T XP_011533341.1:p.Arg4454=
XM_017020539.1:c.13335C>T XP_016876028.1:p.Arg4445=
XM_024449337.1:c.13371C>T XP_024305105.1:p.Arg4457=