Canonical Allele Identifier: CA510290498

Gene: GSS

Linked Data

• dbSNP Id: rs2081406269
• gnomAD v3: 20-34932059-C-T
• gnomAD v4: 20-34932059-C-T
• MyVariant Identifiers: chr20:g.33519862C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932059C>T , CM000682.2:g.34932059C>T	GRCh38
NC_000020.10:g.33519862C>T , CM000682.1:g.33519862C>T	GRCh37
NC_000020.9:g.32983523C>T	NCBI36
NG_008848.1:g.28740G>A
NG_008848.2:g.28969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*549G>A	ENSP00000493524.1:n.*549G>A
ENST00000642498.1:c.909G>A	ENSP00000493631.1:p.Gly303=
ENST00000642538.1:c.*253G>A	ENSP00000493927.1:n.*253G>A
ENST00000643188.1:c.909G>A	ENSP00000493903.1:p.Gly303=
ENST00000643443.1:c.*616G>A	ENSP00000495572.1:n.*616G>A
ENST00000643502.1:c.566G>A
ENST00000643908.1:n.1127G>A
ENST00000644538.1:n.1186G>A
ENST00000644793.1:c.909G>A	ENSP00000495750.1:p.Gly303=
ENST00000645328.1:c.287G>A
ENST00000645408.1:c.442G>A
ENST00000645723.1:n.2148G>A
ENST00000646405.1:c.*327G>A	ENSP00000493744.1:n.*327G>A
ENST00000646497.1:n.854G>A
ENST00000646512.1:n.1055G>A
ENST00000646735.1:c.576G>A	ENSP00000493763.1:p.Gly192=
ENST00000651619.1:c.909G>A MANE Select	ENSP00000498303.1:p.Gly303=
ENST00000216951.6:c.909G>A	ENSP00000216951.2:p.Gly303=
ENST00000451957.2:c.576G>A	ENSP00000407517.2:p.Gly192=
NM_000178.2:c.909G>A	NP_000169.1:p.Gly303=
XM_005260406.3:c.909G>A	XP_005260463.1:p.Gly303=
XM_011528796.1:c.909G>A	XP_011527098.1:p.Gly303=
NM_000178.4:c.909G>A MANE Select	NP_000169.1:p.Gly303=
NM_001322494.1:c.909G>A	NP_001309423.1:p.Gly303=
NM_001322495.1:c.909G>A	NP_001309424.1:p.Gly303=