Canonical Allele Identifier: CA9825918

Gene: GSS

Linked Data

• ClinVar Variation Id: 1363675
• ClinVar RCV Id: RCV001937121
• dbSNP Id: rs762639246
• ExAC: 20:33519782 C / T
• gnomAD v2: 20-33519782-C-T
• gnomAD v3: 20-34931979-C-T
• gnomAD v4: 20-34931979-C-T
• MyVariant Identifiers: chr20:g.33519782C>T (hg19) ; chr20:g.34931979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931979C>T , CM000682.2:g.34931979C>T	GRCh38
NC_000020.10:g.33519782C>T , CM000682.1:g.33519782C>T	GRCh37
NC_000020.9:g.32983443C>T	NCBI36
NG_008848.1:g.28820G>A
NG_008848.2:g.29049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.989G>A	ENSP00000493631.1:p.Arg330His
ENST00000642538.1:c.*333G>A	ENSP00000493927.1:n.*333G>A
ENST00000643188.1:c.989G>A	ENSP00000493903.1:p.Arg330His
ENST00000643443.1:c.*696G>A	ENSP00000495572.1:n.*696G>A
ENST00000643502.1:c.646G>A
ENST00000643908.1:n.1207G>A
ENST00000644538.1:n.1266G>A
ENST00000644793.1:c.989G>A	ENSP00000495750.1:p.Arg330His
ENST00000645328.1:c.367G>A
ENST00000645408.1:c.522G>A
ENST00000645723.1:n.2228G>A
ENST00000646405.1:c.*407G>A	ENSP00000493744.1:n.*407G>A
ENST00000646512.1:n.1135G>A
ENST00000646735.1:c.656G>A	ENSP00000493763.1:p.Arg219His
ENST00000651619.1:c.989G>A MANE Select	ENSP00000498303.1:p.Arg330His
ENST00000216951.6:c.989G>A	ENSP00000216951.2:p.Arg330His
ENST00000451957.2:c.656G>A	ENSP00000407517.2:p.Arg219His
NM_000178.2:c.989G>A	NP_000169.1:p.Arg330His
XM_005260406.3:c.989G>A	XP_005260463.1:p.Arg330His
XM_011528796.1:c.989G>A	XP_011527098.1:p.Arg330His
NM_000178.4:c.989G>A MANE Select	NP_000169.1:p.Arg330His
NM_001322494.1:c.989G>A	NP_001309423.1:p.Arg330His
NM_001322495.1:c.989G>A	NP_001309424.1:p.Arg330His