Canonical Allele Identifier: CA2361424488
Gene: GSS HGNC NCBI

Linked Data

dbSNP Id: rs2081436057

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34935720A>G , CM000682.2:g.34935720A>G GRCh38
NC_000020.10:g.33523523A>G , CM000682.1:g.33523523A>G GRCh37
NC_000020.9:g.32987184A>G NCBI36
NG_008848.1:g.25079T>C
NG_008848.2:g.25308T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642493.1:c.*474+1043T>C ENSP00000493524.1:n.*474+1043T>C
ENST00000642498.1:c.768-78T>C ENSP00000493631.1:n.768-78T>C
ENST00000642538.1:c.*112-78T>C ENSP00000493927.1:n.*112-78T>C
ENST00000643188.1:c.768-78T>C ENSP00000493903.1:n.768-78T>C
ENST00000643443.1:c.*475-78T>C ENSP00000495572.1:n.*475-78T>C
ENST00000643502.1:c.425-78T>C
ENST00000643908.1:n.1052+1223T>C
ENST00000644538.1:n.1045-78T>C
ENST00000644793.1:c.768-78T>C ENSP00000495750.1:n.768-78T>C
ENST00000645328.1:c.146-78T>C
ENST00000645408.1:c.367+1043T>C
ENST00000645723.1:n.2007-78T>C
ENST00000646405.1:c.*252+1043T>C ENSP00000493744.1:n.*252+1043T>C
ENST00000646497.1:n.713-78T>C
ENST00000646502.1:n.1250-78T>C
ENST00000646512.1:n.980+1043T>C
ENST00000646735.1:c.435-78T>C ENSP00000493763.1:n.435-78T>C
ENST00000646766.1:c.*398-78T>C ENSP00000494333.1:n.*398-78T>C
ENST00000651619.1:c.768-78T>C MANE Select ENSP00000498303.1:n.768-78T>C
ENST00000216951.6:c.768-78T>C ENSP00000216951.2:n.768-78T>C
ENST00000451957.2:c.435-78T>C ENSP00000407517.2:n.435-78T>C
NM_000178.2:c.768-78T>C NP_000169.1:n.768-78T>C
XM_005260406.3:c.768-78T>C XP_005260463.1:n.768-78T>C
XM_011528796.1:c.768-78T>C XP_011527098.1:n.768-78T>C
NM_000178.4:c.768-78T>C MANE Select NP_000169.1:n.768-78T>C
NM_001322494.1:c.768-78T>C NP_001309423.1:n.768-78T>C
NM_001322495.1:c.768-78T>C NP_001309424.1:n.768-78T>C