Canonical Allele Identifier: CA408701396

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519930C>T (hg19) ; chr20:g.34932127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932127C>T , CM000682.2:g.34932127C>T	GRCh38
NC_000020.10:g.33519930C>T , CM000682.1:g.33519930C>T	GRCh37
NC_000020.9:g.32983591C>T	NCBI36
NG_008848.1:g.28672G>A
NG_008848.2:g.28901G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642493.1:c.*481G>A	ENSP00000493524.1:n.*481G>A
ENST00000642498.1:c.841G>A	ENSP00000493631.1:p.Glu281Lys
ENST00000642538.1:c.*185G>A	ENSP00000493927.1:n.*185G>A
ENST00000643188.1:c.841G>A	ENSP00000493903.1:p.Glu281Lys
ENST00000643443.1:c.*548G>A	ENSP00000495572.1:n.*548G>A
ENST00000643502.1:c.498G>A
ENST00000643908.1:n.1059G>A
ENST00000644538.1:n.1118G>A
ENST00000644793.1:c.841G>A	ENSP00000495750.1:p.Glu281Lys
ENST00000645328.1:c.219G>A
ENST00000645408.1:c.374G>A
ENST00000645723.1:n.2080G>A
ENST00000646405.1:c.*259G>A	ENSP00000493744.1:n.*259G>A
ENST00000646497.1:n.786G>A
ENST00000646512.1:n.987G>A
ENST00000646735.1:c.508G>A	ENSP00000493763.1:p.Glu170Lys
ENST00000651619.1:c.841G>A MANE Select	ENSP00000498303.1:p.Glu281Lys
ENST00000216951.6:c.841G>A	ENSP00000216951.2:p.Glu281Lys
ENST00000451957.2:c.508G>A	ENSP00000407517.2:p.Glu170Lys
NM_000178.2:c.841G>A	NP_000169.1:p.Glu281Lys
XM_005260406.3:c.841G>A	XP_005260463.1:p.Glu281Lys
XM_011528796.1:c.841G>A	XP_011527098.1:p.Glu281Lys
NM_000178.4:c.841G>A MANE Select	NP_000169.1:p.Glu281Lys
NM_001322494.1:c.841G>A	NP_001309423.1:p.Glu281Lys
NM_001322495.1:c.841G>A	NP_001309424.1:p.Glu281Lys