Canonical Allele Identifier: CA408702394

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33523434T>C (hg19) ; chr20:g.34935631T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935631T>C , CM000682.2:g.34935631T>C	GRCh38
NC_000020.10:g.33523434T>C , CM000682.1:g.33523434T>C	GRCh37
NC_000020.9:g.32987095T>C	NCBI36
NG_008848.1:g.25168A>G
NG_008848.2:g.25397A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642493.1:c.*474+1132A>G	ENSP00000493524.1:n.*474+1132A>G
ENST00000642498.1:c.779A>G	ENSP00000493631.1:p.Glu260Gly
ENST00000642538.1:c.*123A>G	ENSP00000493927.1:n.*123A>G
ENST00000643188.1:c.779A>G	ENSP00000493903.1:p.Glu260Gly
ENST00000643443.1:c.*486A>G	ENSP00000495572.1:n.*486A>G
ENST00000643502.1:c.436A>G
ENST00000643908.1:n.1052+1312A>G
ENST00000644538.1:n.1056A>G
ENST00000644793.1:c.779A>G	ENSP00000495750.1:p.Glu260Gly
ENST00000645328.1:c.157A>G
ENST00000645408.1:c.367+1132A>G
ENST00000645723.1:n.2018A>G
ENST00000646405.1:c.*252+1132A>G	ENSP00000493744.1:n.*252+1132A>G
ENST00000646497.1:n.724A>G
ENST00000646502.1:n.1261A>G
ENST00000646512.1:n.980+1132A>G
ENST00000646735.1:c.446A>G	ENSP00000493763.1:p.Glu149Gly
ENST00000646766.1:c.*409A>G	ENSP00000494333.1:n.*409A>G
ENST00000651619.1:c.779A>G MANE Select	ENSP00000498303.1:p.Glu260Gly
ENST00000216951.6:c.779A>G	ENSP00000216951.2:p.Glu260Gly
ENST00000451957.2:c.446A>G	ENSP00000407517.2:p.Glu149Gly
NM_000178.2:c.779A>G	NP_000169.1:p.Glu260Gly
XM_005260406.3:c.779A>G	XP_005260463.1:p.Glu260Gly
XM_011528796.1:c.779A>G	XP_011527098.1:p.Glu260Gly
NM_000178.4:c.779A>G MANE Select	NP_000169.1:p.Glu260Gly
NM_001322494.1:c.779A>G	NP_001309423.1:p.Glu260Gly
NM_001322495.1:c.779A>G	NP_001309424.1:p.Glu260Gly