Canonical Allele Identifier: CA9826056

Gene: GSS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34941827T>C , CM000682.2:g.34941827T>C	GRCh38
NC_000020.10:g.33529630T>C , CM000682.1:g.33529630T>C	GRCh37
NC_000020.9:g.32993291T>C	NCBI36
NG_008848.1:g.18972A>G
NG_008848.2:g.19201A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000178.4:c.494A>G MANE Select	NP_000169.1:p.His165Arg
ENST00000651619.1:c.494A>G MANE Select	ENSP00000498303.1:p.His165Arg
NM_000178.2:c.494A>G	NP_000169.1:p.His165Arg
NM_001322494.1:c.494A>G	NP_001309423.1:p.His165Arg
NM_001322495.1:c.494A>G	NP_001309424.1:p.His165Arg
ENST00000216951.6:c.494A>G	ENSP00000216951.2:p.His165Arg
ENST00000451957.2:c.275+4126A>G	ENSP00000407517.2:n.275+4126A>G
ENST00000642493.1:c.*201A>G	ENSP00000493524.1:n.*201A>G
ENST00000642498.1:c.494A>G	ENSP00000493631.1:p.His165Arg
ENST00000642538.1:c.351+1104A>G	ENSP00000493927.1:n.351+1104A>G
ENST00000643188.1:c.494A>G	ENSP00000493903.1:p.His165Arg
ENST00000643443.1:c.*201A>G	ENSP00000495572.1:n.*201A>G
ENST00000643502.1:c.151A>G
ENST00000643908.1:n.857A>G
ENST00000644538.1:n.771A>G
ENST00000644793.1:c.494A>G	ENSP00000495750.1:p.His165Arg
ENST00000645408.1:c.94A>G
ENST00000645723.1:n.1733A>G
ENST00000646405.1:c.354A>G	ENSP00000493744.1:p.Thr118=
ENST00000646497.1:n.441A>G
ENST00000646502.1:n.976A>G
ENST00000646512.1:n.707A>G
ENST00000646735.1:c.275+4126A>G	ENSP00000493763.1:n.275+4126A>G
ENST00000646766.1:c.*124A>G	ENSP00000494333.1:n.*124A>G
XM_005260406.3:c.494A>G	XP_005260463.1:p.His165Arg
XM_011528796.1:c.494A>G	XP_011527098.1:p.His165Arg