Canonical Allele Identifier: CA510290484

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519850C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932047C>T , CM000682.2:g.34932047C>T	GRCh38
NC_000020.10:g.33519850C>T , CM000682.1:g.33519850C>T	GRCh37
NC_000020.9:g.32983511C>T	NCBI36
NG_008848.1:g.28752G>A
NG_008848.2:g.28981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*561G>A	ENSP00000493524.1:n.*561G>A
ENST00000642498.1:c.921G>A	ENSP00000493631.1:p.Val307=
ENST00000642538.1:c.*265G>A	ENSP00000493927.1:n.*265G>A
ENST00000643188.1:c.921G>A	ENSP00000493903.1:p.Val307=
ENST00000643443.1:c.*628G>A	ENSP00000495572.1:n.*628G>A
ENST00000643502.1:c.578G>A
ENST00000643908.1:n.1139G>A
ENST00000644538.1:n.1198G>A
ENST00000644793.1:c.921G>A	ENSP00000495750.1:p.Val307=
ENST00000645328.1:c.299G>A
ENST00000645408.1:c.454G>A
ENST00000645723.1:n.2160G>A
ENST00000646405.1:c.*339G>A	ENSP00000493744.1:n.*339G>A
ENST00000646497.1:n.866G>A
ENST00000646512.1:n.1067G>A
ENST00000646735.1:c.588G>A	ENSP00000493763.1:p.Val196=
ENST00000651619.1:c.921G>A MANE Select	ENSP00000498303.1:p.Val307=
ENST00000216951.6:c.921G>A	ENSP00000216951.2:p.Val307=
ENST00000451957.2:c.588G>A	ENSP00000407517.2:p.Val196=
NM_000178.2:c.921G>A	NP_000169.1:p.Val307=
XM_005260406.3:c.921G>A	XP_005260463.1:p.Val307=
XM_011528796.1:c.921G>A	XP_011527098.1:p.Val307=
NM_000178.4:c.921G>A MANE Select	NP_000169.1:p.Val307=
NM_001322494.1:c.921G>A	NP_001309423.1:p.Val307=
NM_001322495.1:c.921G>A	NP_001309424.1:p.Val307=