Canonical Allele Identifier: CA408701100

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519793C>G (hg19) ; chr20:g.34931990C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931990C>G , CM000682.2:g.34931990C>G	GRCh38
NC_000020.10:g.33519793C>G , CM000682.1:g.33519793C>G	GRCh37
NC_000020.9:g.32983454C>G	NCBI36
NG_008848.1:g.28809G>C
NG_008848.2:g.29038G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.978G>C	ENSP00000493631.1:p.Glu326Asp
ENST00000642538.1:c.*322G>C	ENSP00000493927.1:n.*322G>C
ENST00000643188.1:c.978G>C	ENSP00000493903.1:p.Glu326Asp
ENST00000643443.1:c.*685G>C	ENSP00000495572.1:n.*685G>C
ENST00000643502.1:c.635G>C
ENST00000643908.1:n.1196G>C
ENST00000644538.1:n.1255G>C
ENST00000644793.1:c.978G>C	ENSP00000495750.1:p.Glu326Asp
ENST00000645328.1:c.356G>C
ENST00000645408.1:c.511G>C
ENST00000645723.1:n.2217G>C
ENST00000646405.1:c.*396G>C	ENSP00000493744.1:n.*396G>C
ENST00000646512.1:n.1124G>C
ENST00000646735.1:c.645G>C	ENSP00000493763.1:p.Glu215Asp
ENST00000651619.1:c.978G>C MANE Select	ENSP00000498303.1:p.Glu326Asp
ENST00000216951.6:c.978G>C	ENSP00000216951.2:p.Glu326Asp
ENST00000451957.2:c.645G>C	ENSP00000407517.2:p.Glu215Asp
NM_000178.2:c.978G>C	NP_000169.1:p.Glu326Asp
XM_005260406.3:c.978G>C	XP_005260463.1:p.Glu326Asp
XM_011528796.1:c.978G>C	XP_011527098.1:p.Glu326Asp
NM_000178.4:c.978G>C MANE Select	NP_000169.1:p.Glu326Asp
NM_001322494.1:c.978G>C	NP_001309423.1:p.Glu326Asp
NM_001322495.1:c.978G>C	NP_001309424.1:p.Glu326Asp