Canonical Allele Identifier: CA2536468455

Gene: GSS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935694C>A , CM000682.2:g.34935694C>A	GRCh38
NC_000020.10:g.33523497C>A , CM000682.1:g.33523497C>A	GRCh37
NC_000020.9:g.32987158C>A	NCBI36
NG_008848.1:g.25105G>T
NG_008848.2:g.25334G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1069G>T	ENSP00000493524.1:n.*474+1069G>T
ENST00000642498.1:c.768-52G>T	ENSP00000493631.1:n.768-52G>T
ENST00000642538.1:c.*112-52G>T	ENSP00000493927.1:n.*112-52G>T
ENST00000643188.1:c.768-52G>T	ENSP00000493903.1:n.768-52G>T
ENST00000643443.1:c.*475-52G>T	ENSP00000495572.1:n.*475-52G>T
ENST00000643502.1:c.425-52G>T
ENST00000643908.1:n.1052+1249G>T
ENST00000644538.1:n.1045-52G>T
ENST00000644793.1:c.768-52G>T	ENSP00000495750.1:n.768-52G>T
ENST00000645328.1:c.146-52G>T
ENST00000645408.1:c.367+1069G>T
ENST00000645723.1:n.2007-52G>T
ENST00000646405.1:c.*252+1069G>T	ENSP00000493744.1:n.*252+1069G>T
ENST00000646497.1:n.713-52G>T
ENST00000646502.1:n.1250-52G>T
ENST00000646512.1:n.980+1069G>T
ENST00000646735.1:c.435-52G>T	ENSP00000493763.1:n.435-52G>T
ENST00000646766.1:c.*398-52G>T	ENSP00000494333.1:n.*398-52G>T
ENST00000651619.1:c.768-52G>T MANE Select	ENSP00000498303.1:n.768-52G>T
ENST00000216951.6:c.768-52G>T	ENSP00000216951.2:n.768-52G>T
ENST00000451957.2:c.435-52G>T	ENSP00000407517.2:n.435-52G>T
NM_000178.2:c.768-52G>T	NP_000169.1:n.768-52G>T
XM_005260406.3:c.768-52G>T	XP_005260463.1:n.768-52G>T
XM_011528796.1:c.768-52G>T	XP_011527098.1:n.768-52G>T
NM_000178.4:c.768-52G>T MANE Select	NP_000169.1:n.768-52G>T
NM_001322494.1:c.768-52G>T	NP_001309423.1:n.768-52G>T
NM_001322495.1:c.768-52G>T	NP_001309424.1:n.768-52G>T