Canonical Allele Identifier: CA9825931

Gene: GSS

Linked Data

• ClinVar Variation Id: 2906612
• ClinVar RCV Id: RCV003620285
• dbSNP Id: rs745726845
• ExAC: 20:33519841 C / T
• gnomAD v2: 20-33519841-C-T
• gnomAD v3: 20-34932038-C-T
• gnomAD v4: 20-34932038-C-T
• MyVariant Identifiers: chr20:g.33519841C>T (hg19) ; chr20:g.34932038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932038C>T , CM000682.2:g.34932038C>T	GRCh38
NC_000020.10:g.33519841C>T , CM000682.1:g.33519841C>T	GRCh37
NC_000020.9:g.32983502C>T	NCBI36
NG_008848.1:g.28761G>A
NG_008848.2:g.28990G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*570G>A	ENSP00000493524.1:n.*570G>A
ENST00000642498.1:c.930G>A	ENSP00000493631.1:p.Glu310=
ENST00000642538.1:c.*274G>A	ENSP00000493927.1:n.*274G>A
ENST00000643188.1:c.930G>A	ENSP00000493903.1:p.Glu310=
ENST00000643443.1:c.*637G>A	ENSP00000495572.1:n.*637G>A
ENST00000643502.1:c.587G>A
ENST00000643908.1:n.1148G>A
ENST00000644538.1:n.1207G>A
ENST00000644793.1:c.930G>A	ENSP00000495750.1:p.Glu310=
ENST00000645328.1:c.308G>A
ENST00000645408.1:c.463G>A
ENST00000645723.1:n.2169G>A
ENST00000646405.1:c.*348G>A	ENSP00000493744.1:n.*348G>A
ENST00000646497.1:n.875G>A
ENST00000646512.1:n.1076G>A
ENST00000646735.1:c.597G>A	ENSP00000493763.1:p.Glu199=
ENST00000651619.1:c.930G>A MANE Select	ENSP00000498303.1:p.Glu310=
ENST00000216951.6:c.930G>A	ENSP00000216951.2:p.Glu310=
ENST00000451957.2:c.597G>A	ENSP00000407517.2:p.Glu199=
NM_000178.2:c.930G>A	NP_000169.1:p.Glu310=
XM_005260406.3:c.930G>A	XP_005260463.1:p.Glu310=
XM_011528796.1:c.930G>A	XP_011527098.1:p.Glu310=
NM_000178.4:c.930G>A MANE Select	NP_000169.1:p.Glu310=
NM_001322494.1:c.930G>A	NP_001309423.1:p.Glu310=
NM_001322495.1:c.930G>A	NP_001309424.1:p.Glu310=