Canonical Allele Identifier: CA408701110

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519798G>T (hg19) ; chr20:g.34931995G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931995G>T , CM000682.2:g.34931995G>T	GRCh38
NC_000020.10:g.33519798G>T , CM000682.1:g.33519798G>T	GRCh37
NC_000020.9:g.32983459G>T	NCBI36
NG_008848.1:g.28804C>A
NG_008848.2:g.29033C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.973C>A	ENSP00000493631.1:p.Pro325Thr
ENST00000642538.1:c.*317C>A	ENSP00000493927.1:n.*317C>A
ENST00000643188.1:c.973C>A	ENSP00000493903.1:p.Pro325Thr
ENST00000643443.1:c.*680C>A	ENSP00000495572.1:n.*680C>A
ENST00000643502.1:c.630C>A
ENST00000643908.1:n.1191C>A
ENST00000644538.1:n.1250C>A
ENST00000644793.1:c.973C>A	ENSP00000495750.1:p.Pro325Thr
ENST00000645328.1:c.351C>A
ENST00000645408.1:c.506C>A
ENST00000645723.1:n.2212C>A
ENST00000646405.1:c.*391C>A	ENSP00000493744.1:n.*391C>A
ENST00000646512.1:n.1119C>A
ENST00000646735.1:c.640C>A	ENSP00000493763.1:p.Pro214Thr
ENST00000651619.1:c.973C>A MANE Select	ENSP00000498303.1:p.Pro325Thr
ENST00000216951.6:c.973C>A	ENSP00000216951.2:p.Pro325Thr
ENST00000451957.2:c.640C>A	ENSP00000407517.2:p.Pro214Thr
NM_000178.2:c.973C>A	NP_000169.1:p.Pro325Thr
XM_005260406.3:c.973C>A	XP_005260463.1:p.Pro325Thr
XM_011528796.1:c.973C>A	XP_011527098.1:p.Pro325Thr
NM_000178.4:c.973C>A MANE Select	NP_000169.1:p.Pro325Thr
NM_001322494.1:c.973C>A	NP_001309423.1:p.Pro325Thr
NM_001322495.1:c.973C>A	NP_001309424.1:p.Pro325Thr