Canonical Allele Identifier: CA408701167

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519823C>A (hg19) ; chr20:g.34932020C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932020C>A , CM000682.2:g.34932020C>A	GRCh38
NC_000020.10:g.33519823C>A , CM000682.1:g.33519823C>A	GRCh37
NC_000020.9:g.32983484C>A	NCBI36
NG_008848.1:g.28779G>T
NG_008848.2:g.29008G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.948G>T	ENSP00000493631.1:p.Met316Ile
ENST00000642538.1:c.*292G>T	ENSP00000493927.1:n.*292G>T
ENST00000643188.1:c.948G>T	ENSP00000493903.1:p.Met316Ile
ENST00000643443.1:c.*655G>T	ENSP00000495572.1:n.*655G>T
ENST00000643502.1:c.605G>T
ENST00000643908.1:n.1166G>T
ENST00000644538.1:n.1225G>T
ENST00000644793.1:c.948G>T	ENSP00000495750.1:p.Met316Ile
ENST00000645328.1:c.326G>T
ENST00000645408.1:c.481G>T
ENST00000645723.1:n.2187G>T
ENST00000646405.1:c.*366G>T	ENSP00000493744.1:n.*366G>T
ENST00000646497.1:n.893G>T
ENST00000646512.1:n.1094G>T
ENST00000646735.1:c.615G>T	ENSP00000493763.1:p.Met205Ile
ENST00000651619.1:c.948G>T MANE Select	ENSP00000498303.1:p.Met316Ile
ENST00000216951.6:c.948G>T	ENSP00000216951.2:p.Met316Ile
ENST00000451957.2:c.615G>T	ENSP00000407517.2:p.Met205Ile
NM_000178.2:c.948G>T	NP_000169.1:p.Met316Ile
XM_005260406.3:c.948G>T	XP_005260463.1:p.Met316Ile
XM_011528796.1:c.948G>T	XP_011527098.1:p.Met316Ile
NM_000178.4:c.948G>T MANE Select	NP_000169.1:p.Met316Ile
NM_001322494.1:c.948G>T	NP_001309423.1:p.Met316Ile
NM_001322495.1:c.948G>T	NP_001309424.1:p.Met316Ile