Canonical Allele Identifier: CA2361422918
Gene: GSS HGNC NCBI

Linked Data

dbSNP Id: rs1600378421

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34931716C>T , CM000682.2:g.34931716C>T GRCh38
NC_000020.10:g.33519519C>T , CM000682.1:g.33519519C>T GRCh37
NC_000020.9:g.32983180C>T NCBI36
NG_008848.1:g.29083G>A
NG_008848.2:g.29312G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642498.1:c.1029+223G>A ENSP00000493631.1:n.1029+223G>A
ENST00000642538.1:c.*373+223G>A ENSP00000493927.1:n.*373+223G>A
ENST00000643188.1:c.1029+223G>A ENSP00000493903.1:n.1029+223G>A
ENST00000643443.1:c.*736+223G>A ENSP00000495572.1:n.*736+223G>A
ENST00000643502.1:c.686+223G>A
ENST00000643908.1:n.1247+223G>A
ENST00000644538.1:n.1306+223G>A
ENST00000644793.1:c.1029+223G>A ENSP00000495750.1:n.1029+223G>A
ENST00000645328.1:c.407+223G>A
ENST00000645408.1:c.562+223G>A
ENST00000645723.1:n.2268+223G>A
ENST00000646405.1:c.*447+223G>A ENSP00000493744.1:n.*447+223G>A
ENST00000646512.1:n.1175+223G>A
ENST00000646735.1:c.696+223G>A ENSP00000493763.1:n.696+223G>A
ENST00000651619.1:c.1029+223G>A MANE Select ENSP00000498303.1:n.1029+223G>A
ENST00000216951.6:c.1029+223G>A ENSP00000216951.2:n.1029+223G>A
ENST00000451957.2:c.696+223G>A ENSP00000407517.2:n.696+223G>A
NM_000178.2:c.1029+223G>A NP_000169.1:n.1029+223G>A
XM_005260406.3:c.1029+223G>A XP_005260463.1:n.1029+223G>A
XM_011528796.1:c.1029+223G>A XP_011527098.1:n.1029+223G>A
NM_000178.4:c.1029+223G>A MANE Select NP_000169.1:n.1029+223G>A
NM_001322494.1:c.1029+223G>A NP_001309423.1:n.1029+223G>A
NM_001322495.1:c.1029+223G>A NP_001309424.1:n.1029+223G>A