Canonical Allele Identifier: CA6911014
Community Standard Title: NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg)
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337019T>C , CM000675.2:g.23337019T>C GRCh38
NC_000013.10:g.23911158T>C , CM000675.1:g.23911158T>C GRCh37
NC_000013.9:g.22809158T>C NCBI36
NG_012342.1:g.101684A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014363.6:c.6857A>G MANE Select NP_055178.3:p.Lys2286Arg
ENST00000382292.9:c.6857A>G MANE Select ENSP00000371729.3:p.Lys2286Arg
NM_001278055.1:c.6416A>G NP_001264984.1:p.Lys2139Arg
NM_001278055.2:c.6416A>G NP_001264984.1:p.Lys2139Arg
NM_014363.5:c.6857A>G NP_055178.3:p.Lys2286Arg
ENST00000382292.7:c.6857A>G ENSP00000371729.3:p.Lys2286Arg
ENST00000382298.7:c.6857A>G ENSP00000371735.3:p.Lys2286Arg
ENST00000402364.1:c.4607A>G ENSP00000385844.1:p.Lys1536Arg
ENST00000423156.1:c.1058-7535A>G ENSP00000390925.1:n.1058-7535A>G
ENST00000423156.2:c.2186-7535A>G ENSP00000390925.2:n.2186-7535A>G
ENST00000455470.5:c.2129+4426A>G
ENST00000455470.6:c.2431+4426A>G ENSP00000406565.2:n.2431+4426A>G
ENST00000682775.1:c.2185+16766A>G ENSP00000508399.1:n.2185+16766A>G
ENST00000682944.1:c.6884A>G ENSP00000507173.1:p.Lys2295Arg
ENST00000683210.1:c.2185+16766A>G ENSP00000506739.1:n.2185+16766A>G
ENST00000683270.1:c.6445+403A>G ENSP00000507624.1:n.6445+403A>G
ENST00000683367.1:c.2177-7535A>G ENSP00000507780.1:n.2177-7535A>G
ENST00000683489.1:c.2291+4566A>G ENSP00000508403.1:n.2291+4566A>G
ENST00000683680.1:c.2318+4566A>G ENSP00000507223.1:n.2318+4566A>G
ENST00000684163.1:c.2204-7535A>G ENSP00000508262.1:n.2204-7535A>G
ENST00000684196.1:n.4543-7535A>G
ENST00000684325.1:c.2186-15345A>G ENSP00000508121.1:n.2186-15345A>G
ENST00000684385.1:c.2221-7535A>G ENSP00000507855.1:n.2221-7535A>G
ENST00000684497.1:c.2186-14375A>G ENSP00000507057.1:n.2186-14375A>G
XM_005266338.1:c.6884A>G XP_005266395.1:p.Lys2295Arg
XM_005266338.2:c.6884A>G XP_005266395.1:p.Lys2295Arg
XM_011535038.1:c.6908A>G XP_011533340.1:p.Lys2303Arg
XM_011535039.1:c.6875A>G XP_011533341.1:p.Lys2292Arg
XM_011535039.2:c.6875A>G XP_011533341.1:p.Lys2292Arg
XM_017020539.1:c.6848A>G XP_016876028.1:p.Lys2283Arg
XM_024449337.1:c.6884A>G XP_024305105.1:p.Lys2295Arg