Canonical Allele Identifier: CA408700801

Gene: GSS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34929584T>C , CM000682.2:g.34929584T>C	GRCh38
NC_000020.10:g.33517387T>C , CM000682.1:g.33517387T>C	GRCh37
NC_000020.9:g.32981048T>C	NCBI36
NG_008848.1:g.31215A>G
NG_011520.1:g.59643T>C
NG_008848.2:g.31444A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000178.4:c.1118A>G MANE Select	NP_000169.1:p.Asn373Ser
ENST00000651619.1:c.1118A>G MANE Select	ENSP00000498303.1:p.Asn373Ser
NM_000178.2:c.1118A>G	NP_000169.1:p.Asn373Ser
NM_001322494.1:c.1118A>G	NP_001309423.1:p.Asn373Ser
NM_001322495.1:c.1118A>G	NP_001309424.1:p.Asn373Ser
ENST00000216951.6:c.1118A>G	ENSP00000216951.2:p.Asn373Ser
ENST00000451957.2:c.785A>G	ENSP00000407517.2:p.Asn262Ser
ENST00000642498.1:c.1118A>G	ENSP00000493631.1:p.Asn373Ser
ENST00000642538.1:c.*462A>G	ENSP00000493927.1:n.*462A>G
ENST00000643188.1:c.1118A>G	ENSP00000493903.1:p.Asn373Ser
ENST00000643443.1:c.*825A>G	ENSP00000495572.1:n.*825A>G
ENST00000643502.1:c.775A>G
ENST00000643908.1:n.1336A>G
ENST00000644538.1:n.1395A>G
ENST00000644694.1:n.255A>G
ENST00000644793.1:c.1118A>G	ENSP00000495750.1:p.Asn373Ser
ENST00000645328.1:c.490-633A>G
ENST00000645408.1:c.651A>G
ENST00000645723.1:n.2357A>G
ENST00000646405.1:c.*536A>G	ENSP00000493744.1:n.*536A>G
ENST00000646512.1:n.1264A>G
ENST00000646735.1:c.785A>G	ENSP00000493763.1:p.Asn262Ser
XM_005260406.3:c.1118A>G	XP_005260463.1:p.Asn373Ser
XM_011528796.1:c.1118A>G	XP_011527098.1:p.Asn373Ser