Canonical Allele Identifier: CA2361427038
Gene: GSS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34942458G= , CM000682.2:g.34942458G= GRCh38
NC_000020.10:g.33530261G= , CM000682.1:g.33530261G= GRCh37
NC_000020.9:g.32993922G= NCBI36
NG_008848.1:g.18341C=
NG_008848.2:g.18570C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000642493.1:c.*198+30C= ENSP00000493524.1:n.*198+30C=
ENST00000642498.1:c.491+30C= ENSP00000493631.1:n.491+30C=
ENST00000642538.1:c.351+473C= ENSP00000493927.1:n.351+473C=
ENST00000643188.1:c.491+30C= ENSP00000493903.1:n.491+30C=
ENST00000643443.1:c.*198+30C= ENSP00000495572.1:n.*198+30C=
ENST00000643502.1:c.148+30C=
ENST00000643908.1:n.854+30C=
ENST00000644538.1:n.768+30C=
ENST00000644793.1:c.491+30C= ENSP00000495750.1:n.491+30C=
ENST00000645408.1:c.91+30C=
ENST00000645723.1:n.1730+30C=
ENST00000646405.1:c.351+473C= ENSP00000493744.1:n.351+473C=
ENST00000646497.1:n.438+30C=
ENST00000646502.1:n.973+30C=
ENST00000646512.1:n.704+30C=
ENST00000646735.1:c.275+3495C= ENSP00000493763.1:n.275+3495C=
ENST00000646766.1:c.*121+30C= ENSP00000494333.1:n.*121+30C=
ENST00000651619.1:c.491+30C= MANE Select ENSP00000498303.1:n.491+30C=
ENST00000216951.6:c.491+30C= ENSP00000216951.2:n.491+30C=
ENST00000451957.2:c.275+3495C= ENSP00000407517.2:n.275+3495C=
NM_000178.2:c.491+30C= NP_000169.1:n.491+30C=
XM_005260406.3:c.491+30C= XP_005260463.1:n.491+30C=
XM_011528796.1:c.491+30C= XP_011527098.1:n.491+30C=
NM_000178.4:c.491+30C= MANE Select NP_000169.1:n.491+30C=
NM_001322494.1:c.491+30C= NP_001309423.1:n.491+30C=
NM_001322495.1:c.491+30C= NP_001309424.1:n.491+30C=