Canonical Allele Identifier: CA9825913

Gene: GSS

Linked Data

• ClinVar Variation Id: 2777766
• ClinVar RCV Id: RCV003619883
• dbSNP Id: rs374760588
• ExAC: 20:33519775 G / A
• gnomAD v2: 20-33519775-G-A
• gnomAD v3: 20-34931972-G-A
• gnomAD v4: 20-34931972-G-A
• MyVariant Identifiers: chr20:g.33519775G>A (hg19) ; chr20:g.34931972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931972G>A , CM000682.2:g.34931972G>A	GRCh38
NC_000020.10:g.33519775G>A , CM000682.1:g.33519775G>A	GRCh37
NC_000020.9:g.32983436G>A	NCBI36
NG_008848.1:g.28827C>T
NG_008848.2:g.29056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.996C>T	ENSP00000493631.1:p.Arg332=
ENST00000642538.1:c.*340C>T	ENSP00000493927.1:n.*340C>T
ENST00000643188.1:c.996C>T	ENSP00000493903.1:p.Arg332=
ENST00000643443.1:c.*703C>T	ENSP00000495572.1:n.*703C>T
ENST00000643502.1:c.653C>T
ENST00000643908.1:n.1214C>T
ENST00000644538.1:n.1273C>T
ENST00000644793.1:c.996C>T	ENSP00000495750.1:p.Arg332=
ENST00000645328.1:c.374C>T
ENST00000645408.1:c.529C>T
ENST00000645723.1:n.2235C>T
ENST00000646405.1:c.*414C>T	ENSP00000493744.1:n.*414C>T
ENST00000646512.1:n.1142C>T
ENST00000646735.1:c.663C>T	ENSP00000493763.1:p.Arg221=
ENST00000651619.1:c.996C>T MANE Select	ENSP00000498303.1:p.Arg332=
ENST00000216951.6:c.996C>T	ENSP00000216951.2:p.Arg332=
ENST00000451957.2:c.663C>T	ENSP00000407517.2:p.Arg221=
NM_000178.2:c.996C>T	NP_000169.1:p.Arg332=
XM_005260406.3:c.996C>T	XP_005260463.1:p.Arg332=
XM_011528796.1:c.996C>T	XP_011527098.1:p.Arg332=
NM_000178.4:c.996C>T MANE Select	NP_000169.1:p.Arg332=
NM_001322494.1:c.996C>T	NP_001309423.1:p.Arg332=
NM_001322495.1:c.996C>T	NP_001309424.1:p.Arg332=