Canonical Allele Identifier: CA2361427101
Community Standard Title: NM_000178.4(GSS):c.373C= (p.Arg125=)
Gene: GSS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34942606G= , CM000682.2:g.34942606G= GRCh38
NC_000020.10:g.33530409G= , CM000682.1:g.33530409G= GRCh37
NC_000020.9:g.32994070G= NCBI36
NG_008848.1:g.18193C=
NG_008848.2:g.18422C=

Transcript Alleles

HGVS Amino-acid Change
NM_000178.4:c.373C= MANE Select NP_000169.1:p.Arg125=
ENST00000651619.1:c.373C= MANE Select ENSP00000498303.1:p.Arg125=
NM_000178.2:c.373C= NP_000169.1:p.Arg125=
NM_001322494.1:c.373C= NP_001309423.1:p.Arg125=
NM_001322495.1:c.373C= NP_001309424.1:p.Arg125=
ENST00000216951.6:c.373C= ENSP00000216951.2:p.Arg125=
ENST00000451957.2:c.275+3347C= ENSP00000407517.2:n.275+3347C=
ENST00000642493.1:c.*80C= ENSP00000493524.1:n.*80C=
ENST00000642498.1:c.373C= ENSP00000493631.1:p.Arg125=
ENST00000642538.1:c.351+325C= ENSP00000493927.1:n.351+325C=
ENST00000643188.1:c.373C= ENSP00000493903.1:p.Arg125=
ENST00000643271.1:c.373C= ENSP00000496125.1:p.Arg125=
ENST00000643443.1:c.*80C= ENSP00000495572.1:n.*80C=
ENST00000643502.1:c.51-21C=
ENST00000643908.1:n.736C=
ENST00000644538.1:n.650C=
ENST00000644793.1:c.373C= ENSP00000495750.1:p.Arg125=
ENST00000645723.1:n.1612C=
ENST00000646405.1:c.351+325C= ENSP00000493744.1:n.351+325C=
ENST00000646497.1:n.320C=
ENST00000646502.1:n.855C=
ENST00000646512.1:n.586C=
ENST00000646735.1:c.275+3347C= ENSP00000493763.1:n.275+3347C=
ENST00000646766.1:c.*3C= ENSP00000494333.1:n.*3C=
XM_005260406.3:c.373C= XP_005260463.1:p.Arg125=
XM_011528796.1:c.373C= XP_011527098.1:p.Arg125=