Canonical Allele Identifier: CA9825881

Gene: GSS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931374G>C , CM000682.2:g.34931374G>C	GRCh38
NC_000020.10:g.33519177G>C , CM000682.1:g.33519177G>C	GRCh37
NC_000020.9:g.32982838G>C	NCBI36
NG_008848.1:g.29425C>G
NG_008848.2:g.29654C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.1073C>G	ENSP00000493631.1:p.Pro358Arg
ENST00000642538.1:c.*417C>G	ENSP00000493927.1:n.*417C>G
ENST00000643188.1:c.1073C>G	ENSP00000493903.1:p.Pro358Arg
ENST00000643443.1:c.*780C>G	ENSP00000495572.1:n.*780C>G
ENST00000643502.1:c.730C>G
ENST00000643908.1:n.1291C>G
ENST00000644538.1:n.1350C>G
ENST00000644694.1:n.210C>G
ENST00000644793.1:c.1073C>G	ENSP00000495750.1:p.Pro358Arg
ENST00000645328.1:c.451C>G
ENST00000645408.1:c.606C>G
ENST00000645723.1:n.2312C>G
ENST00000646405.1:c.*491C>G	ENSP00000493744.1:n.*491C>G
ENST00000646512.1:n.1219C>G
ENST00000646735.1:c.740C>G	ENSP00000493763.1:p.Pro247Arg
ENST00000651619.1:c.1073C>G MANE Select	ENSP00000498303.1:p.Pro358Arg
ENST00000216951.6:c.1073C>G	ENSP00000216951.2:p.Pro358Arg
ENST00000451957.2:c.740C>G	ENSP00000407517.2:p.Pro247Arg
NM_000178.2:c.1073C>G	NP_000169.1:p.Pro358Arg
XM_005260406.3:c.1073C>G	XP_005260463.1:p.Pro358Arg
XM_011528796.1:c.1073C>G	XP_011527098.1:p.Pro358Arg
NM_000178.4:c.1073C>G MANE Select	NP_000169.1:p.Pro358Arg
NM_001322494.1:c.1073C>G	NP_001309423.1:p.Pro358Arg
NM_001322495.1:c.1073C>G	NP_001309424.1:p.Pro358Arg