Canonical Allele Identifier: CA510290438

Gene: GSS

Linked Data

• ClinVar Variation Id: 2862669
• ClinVar RCV Id: RCV003621487
• MyVariant Identifiers: chr20:g.33519802G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931999G>A , CM000682.2:g.34931999G>A	GRCh38
NC_000020.10:g.33519802G>A , CM000682.1:g.33519802G>A	GRCh37
NC_000020.9:g.32983463G>A	NCBI36
NG_008848.1:g.28800C>T
NG_008848.2:g.29029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.969C>T	ENSP00000493631.1:p.Gly323=
ENST00000642538.1:c.*313C>T	ENSP00000493927.1:n.*313C>T
ENST00000643188.1:c.969C>T	ENSP00000493903.1:p.Gly323=
ENST00000643443.1:c.*676C>T	ENSP00000495572.1:n.*676C>T
ENST00000643502.1:c.626C>T
ENST00000643908.1:n.1187C>T
ENST00000644538.1:n.1246C>T
ENST00000644793.1:c.969C>T	ENSP00000495750.1:p.Gly323=
ENST00000645328.1:c.347C>T
ENST00000645408.1:c.502C>T
ENST00000645723.1:n.2208C>T
ENST00000646405.1:c.*387C>T	ENSP00000493744.1:n.*387C>T
ENST00000646512.1:n.1115C>T
ENST00000646735.1:c.636C>T	ENSP00000493763.1:p.Gly212=
ENST00000651619.1:c.969C>T MANE Select	ENSP00000498303.1:p.Gly323=
ENST00000216951.6:c.969C>T	ENSP00000216951.2:p.Gly323=
ENST00000451957.2:c.636C>T	ENSP00000407517.2:p.Gly212=
NM_000178.2:c.969C>T	NP_000169.1:p.Gly323=
XM_005260406.3:c.969C>T	XP_005260463.1:p.Gly323=
XM_011528796.1:c.969C>T	XP_011527098.1:p.Gly323=
NM_000178.4:c.969C>T MANE Select	NP_000169.1:p.Gly323=
NM_001322494.1:c.969C>T	NP_001309423.1:p.Gly323=
NM_001322495.1:c.969C>T	NP_001309424.1:p.Gly323=