Canonical Allele Identifier: CA2739277142

Gene: GSS

Linked Data

• ClinVar Variation Id: 2798364
• ClinVar RCV Id: RCV003620533

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931928T>C , CM000682.2:g.34931928T>C	GRCh38
NC_000020.10:g.33519731T>C , CM000682.1:g.33519731T>C	GRCh37
NC_000020.9:g.32983392T>C	NCBI36
NG_008848.1:g.28871A>G
NG_008848.2:g.29100A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.1029+11A>G	ENSP00000493631.1:n.1029+11A>G
ENST00000642538.1:c.*373+11A>G	ENSP00000493927.1:n.*373+11A>G
ENST00000643188.1:c.1029+11A>G	ENSP00000493903.1:n.1029+11A>G
ENST00000643443.1:c.*736+11A>G	ENSP00000495572.1:n.*736+11A>G
ENST00000643502.1:c.686+11A>G
ENST00000643908.1:n.1247+11A>G
ENST00000644538.1:n.1306+11A>G
ENST00000644793.1:c.1029+11A>G	ENSP00000495750.1:n.1029+11A>G
ENST00000645328.1:c.407+11A>G
ENST00000645408.1:c.562+11A>G
ENST00000645723.1:n.2268+11A>G
ENST00000646405.1:c.*447+11A>G	ENSP00000493744.1:n.*447+11A>G
ENST00000646512.1:n.1175+11A>G
ENST00000646735.1:c.696+11A>G	ENSP00000493763.1:n.696+11A>G
ENST00000651619.1:c.1029+11A>G MANE Select	ENSP00000498303.1:n.1029+11A>G
ENST00000216951.6:c.1029+11A>G	ENSP00000216951.2:n.1029+11A>G
ENST00000451957.2:c.696+11A>G	ENSP00000407517.2:n.696+11A>G
NM_000178.2:c.1029+11A>G	NP_000169.1:n.1029+11A>G
XM_005260406.3:c.1029+11A>G	XP_005260463.1:n.1029+11A>G
XM_011528796.1:c.1029+11A>G	XP_011527098.1:n.1029+11A>G
NM_000178.4:c.1029+11A>G MANE Select	NP_000169.1:n.1029+11A>G
NM_001322494.1:c.1029+11A>G	NP_001309423.1:n.1029+11A>G
NM_001322495.1:c.1029+11A>G	NP_001309424.1:n.1029+11A>G