Canonical Allele Identifier: CA2361422931
Gene: GSS HGNC NCBI

Linked Data

dbSNP Id: rs2081403077

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34931759T>A , CM000682.2:g.34931759T>A GRCh38
NC_000020.10:g.33519562T>A , CM000682.1:g.33519562T>A GRCh37
NC_000020.9:g.32983223T>A NCBI36
NG_008848.1:g.29040A>T
NG_008848.2:g.29269A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642498.1:c.1029+180A>T ENSP00000493631.1:n.1029+180A>T
ENST00000642538.1:c.*373+180A>T ENSP00000493927.1:n.*373+180A>T
ENST00000643188.1:c.1029+180A>T ENSP00000493903.1:n.1029+180A>T
ENST00000643443.1:c.*736+180A>T ENSP00000495572.1:n.*736+180A>T
ENST00000643502.1:c.686+180A>T
ENST00000643908.1:n.1247+180A>T
ENST00000644538.1:n.1306+180A>T
ENST00000644793.1:c.1029+180A>T ENSP00000495750.1:n.1029+180A>T
ENST00000645328.1:c.407+180A>T
ENST00000645408.1:c.562+180A>T
ENST00000645723.1:n.2268+180A>T
ENST00000646405.1:c.*447+180A>T ENSP00000493744.1:n.*447+180A>T
ENST00000646512.1:n.1175+180A>T
ENST00000646735.1:c.696+180A>T ENSP00000493763.1:n.696+180A>T
ENST00000651619.1:c.1029+180A>T MANE Select ENSP00000498303.1:n.1029+180A>T
ENST00000216951.6:c.1029+180A>T ENSP00000216951.2:n.1029+180A>T
ENST00000451957.2:c.696+180A>T ENSP00000407517.2:n.696+180A>T
NM_000178.2:c.1029+180A>T NP_000169.1:n.1029+180A>T
XM_005260406.3:c.1029+180A>T XP_005260463.1:n.1029+180A>T
XM_011528796.1:c.1029+180A>T XP_011527098.1:n.1029+180A>T
NM_000178.4:c.1029+180A>T MANE Select NP_000169.1:n.1029+180A>T
NM_001322494.1:c.1029+180A>T NP_001309423.1:n.1029+180A>T
NM_001322495.1:c.1029+180A>T NP_001309424.1:n.1029+180A>T