Canonical Allele Identifier: CA2361424434
Community Standard Title: NM_000178.4(GSS):c.799C= (p.Arg267=)
Gene: GSS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34935611G= , CM000682.2:g.34935611G= GRCh38
NC_000020.10:g.33523414G= , CM000682.1:g.33523414G= GRCh37
NC_000020.9:g.32987075G= NCBI36
NG_008848.1:g.25188C=
NG_008848.2:g.25417C=

Transcript Alleles

HGVS Amino-acid Change
NM_000178.4:c.799C= MANE Select NP_000169.1:p.Arg267=
ENST00000651619.1:c.799C= MANE Select ENSP00000498303.1:p.Arg267=
NM_000178.2:c.799C= NP_000169.1:p.Arg267=
NM_001322494.1:c.799C= NP_001309423.1:p.Arg267=
NM_001322495.1:c.799C= NP_001309424.1:p.Arg267=
ENST00000216951.6:c.799C= ENSP00000216951.2:p.Arg267=
ENST00000451957.2:c.466C= ENSP00000407517.2:p.Arg156=
ENST00000642493.1:c.*474+1152C= ENSP00000493524.1:n.*474+1152C=
ENST00000642498.1:c.799C= ENSP00000493631.1:p.Arg267=
ENST00000642538.1:c.*143C= ENSP00000493927.1:n.*143C=
ENST00000643188.1:c.799C= ENSP00000493903.1:p.Arg267=
ENST00000643443.1:c.*506C= ENSP00000495572.1:n.*506C=
ENST00000643502.1:c.456C=
ENST00000643908.1:n.1052+1332C=
ENST00000644538.1:n.1076C=
ENST00000644793.1:c.799C= ENSP00000495750.1:p.Arg267=
ENST00000645328.1:c.177C=
ENST00000645408.1:c.367+1152C=
ENST00000645723.1:n.2038C=
ENST00000646405.1:c.*252+1152C= ENSP00000493744.1:n.*252+1152C=
ENST00000646497.1:n.744C=
ENST00000646502.1:n.1281C=
ENST00000646512.1:n.980+1152C=
ENST00000646735.1:c.466C= ENSP00000493763.1:p.Arg156=
XM_005260406.3:c.799C= XP_005260463.1:p.Arg267=
XM_011528796.1:c.799C= XP_011527098.1:p.Arg267=