Canonical Allele Identifier: CA510290678

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33523430A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935627A>G , CM000682.2:g.34935627A>G	GRCh38
NC_000020.10:g.33523430A>G , CM000682.1:g.33523430A>G	GRCh37
NC_000020.9:g.32987091A>G	NCBI36
NG_008848.1:g.25172T>C
NG_008848.2:g.25401T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642493.1:c.*474+1136T>C	ENSP00000493524.1:n.*474+1136T>C
ENST00000642498.1:c.783T>C	ENSP00000493631.1:p.Ile261=
ENST00000642538.1:c.*127T>C	ENSP00000493927.1:n.*127T>C
ENST00000643188.1:c.783T>C	ENSP00000493903.1:p.Ile261=
ENST00000643443.1:c.*490T>C	ENSP00000495572.1:n.*490T>C
ENST00000643502.1:c.440T>C
ENST00000643908.1:n.1052+1316T>C
ENST00000644538.1:n.1060T>C
ENST00000644793.1:c.783T>C	ENSP00000495750.1:p.Ile261=
ENST00000645328.1:c.161T>C
ENST00000645408.1:c.367+1136T>C
ENST00000645723.1:n.2022T>C
ENST00000646405.1:c.*252+1136T>C	ENSP00000493744.1:n.*252+1136T>C
ENST00000646497.1:n.728T>C
ENST00000646502.1:n.1265T>C
ENST00000646512.1:n.980+1136T>C
ENST00000646735.1:c.450T>C	ENSP00000493763.1:p.Ile150=
ENST00000646766.1:c.*413T>C	ENSP00000494333.1:n.*413T>C
ENST00000651619.1:c.783T>C MANE Select	ENSP00000498303.1:p.Ile261=
ENST00000216951.6:c.783T>C	ENSP00000216951.2:p.Ile261=
ENST00000451957.2:c.450T>C	ENSP00000407517.2:p.Ile150=
NM_000178.2:c.783T>C	NP_000169.1:p.Ile261=
XM_005260406.3:c.783T>C	XP_005260463.1:p.Ile261=
XM_011528796.1:c.783T>C	XP_011527098.1:p.Ile261=
NM_000178.4:c.783T>C MANE Select	NP_000169.1:p.Ile261=
NM_001322494.1:c.783T>C	NP_001309423.1:p.Ile261=
NM_001322495.1:c.783T>C	NP_001309424.1:p.Ile261=