Canonical Allele Identifier: CA2361427086
Gene: GSS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34942579C= , CM000682.2:g.34942579C= GRCh38
NC_000020.10:g.33530382C= , CM000682.1:g.33530382C= GRCh37
NC_000020.9:g.32994043C= NCBI36
NG_008848.1:g.18220G=
NG_008848.2:g.18449G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000642493.1:c.*107G= ENSP00000493524.1:n.*107G=
ENST00000642498.1:c.400G= ENSP00000493631.1:p.Ala134=
ENST00000642538.1:c.351+352G= ENSP00000493927.1:n.351+352G=
ENST00000643188.1:c.400G= ENSP00000493903.1:p.Ala134=
ENST00000643271.1:c.400G= ENSP00000496125.1:p.Ala134=
ENST00000643443.1:c.*107G= ENSP00000495572.1:n.*107G=
ENST00000643502.1:c.57G=
ENST00000643908.1:n.763G=
ENST00000644538.1:n.677G=
ENST00000644793.1:c.400G= ENSP00000495750.1:p.Ala134=
ENST00000645723.1:n.1639G=
ENST00000646405.1:c.351+352G= ENSP00000493744.1:n.351+352G=
ENST00000646497.1:n.347G=
ENST00000646502.1:n.882G=
ENST00000646512.1:n.613G=
ENST00000646735.1:c.275+3374G= ENSP00000493763.1:n.275+3374G=
ENST00000646766.1:c.*30G= ENSP00000494333.1:n.*30G=
ENST00000651619.1:c.400G= MANE Select ENSP00000498303.1:p.Ala134=
ENST00000216951.6:c.400G= ENSP00000216951.2:p.Ala134=
ENST00000451957.2:c.275+3374G= ENSP00000407517.2:n.275+3374G=
NM_000178.2:c.400G= NP_000169.1:p.Ala134=
XM_005260406.3:c.400G= XP_005260463.1:p.Ala134=
XM_011528796.1:c.400G= XP_011527098.1:p.Ala134=
NM_000178.4:c.400G= MANE Select NP_000169.1:p.Ala134=
NM_001322494.1:c.400G= NP_001309423.1:p.Ala134=
NM_001322495.1:c.400G= NP_001309424.1:p.Ala134=