Canonical Allele Identifier: CA408702418

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33523438G>C (hg19) ; chr20:g.34935635G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935635G>C , CM000682.2:g.34935635G>C	GRCh38
NC_000020.10:g.33523438G>C , CM000682.1:g.33523438G>C	GRCh37
NC_000020.9:g.32987099G>C	NCBI36
NG_008848.1:g.25164C>G
NG_008848.2:g.25393C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1128C>G	ENSP00000493524.1:n.*474+1128C>G
ENST00000642498.1:c.775C>G	ENSP00000493631.1:p.Gln259Glu
ENST00000642538.1:c.*119C>G	ENSP00000493927.1:n.*119C>G
ENST00000643188.1:c.775C>G	ENSP00000493903.1:p.Gln259Glu
ENST00000643443.1:c.*482C>G	ENSP00000495572.1:n.*482C>G
ENST00000643502.1:c.432C>G
ENST00000643908.1:n.1052+1308C>G
ENST00000644538.1:n.1052C>G
ENST00000644793.1:c.775C>G	ENSP00000495750.1:p.Gln259Glu
ENST00000645328.1:c.153C>G
ENST00000645408.1:c.367+1128C>G
ENST00000645723.1:n.2014C>G
ENST00000646405.1:c.*252+1128C>G	ENSP00000493744.1:n.*252+1128C>G
ENST00000646497.1:n.720C>G
ENST00000646502.1:n.1257C>G
ENST00000646512.1:n.980+1128C>G
ENST00000646735.1:c.442C>G	ENSP00000493763.1:p.Gln148Glu
ENST00000646766.1:c.*405C>G	ENSP00000494333.1:n.*405C>G
ENST00000651619.1:c.775C>G MANE Select	ENSP00000498303.1:p.Gln259Glu
ENST00000216951.6:c.775C>G	ENSP00000216951.2:p.Gln259Glu
ENST00000451957.2:c.442C>G	ENSP00000407517.2:p.Gln148Glu
NM_000178.2:c.775C>G	NP_000169.1:p.Gln259Glu
XM_005260406.3:c.775C>G	XP_005260463.1:p.Gln259Glu
XM_011528796.1:c.775C>G	XP_011527098.1:p.Gln259Glu
NM_000178.4:c.775C>G MANE Select	NP_000169.1:p.Gln259Glu
NM_001322494.1:c.775C>G	NP_001309423.1:p.Gln259Glu
NM_001322495.1:c.775C>G	NP_001309424.1:p.Gln259Glu