Canonical Allele Identifier: CA9825844

Gene: GSS

Linked Data

• ClinVar Variation Id: 338296
• ClinVar RCV Id: RCV000261146
• dbSNP Id: rs771438550
• ExAC: 20:33517319 T / C
• gnomAD v2: 20-33517319-T-C
• gnomAD v3: 20-34929516-T-C
• gnomAD v4: 20-34929516-T-C
• MyVariant Identifiers: chr20:g.33517319T>C (hg19) ; chr20:g.34929516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34929516T>C , CM000682.2:g.34929516T>C	GRCh38
NC_000020.10:g.33517319T>C , CM000682.1:g.33517319T>C	GRCh37
NC_000020.9:g.32980980T>C	NCBI36
NG_008848.1:g.31283A>G
NG_011520.1:g.59575T>C
NG_008848.2:g.31512A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.1186A>G	ENSP00000493631.1:p.Ile396Val
ENST00000642538.1:c.*530A>G	ENSP00000493927.1:n.*530A>G
ENST00000643188.1:c.1186A>G	ENSP00000493903.1:p.Ile396Val
ENST00000643443.1:c.*893A>G	ENSP00000495572.1:n.*893A>G
ENST00000643502.1:c.843A>G
ENST00000643908.1:n.1404A>G
ENST00000644538.1:n.1463A>G
ENST00000644694.1:n.323A>G
ENST00000644793.1:c.1186A>G	ENSP00000495750.1:p.Ile396Val
ENST00000645328.1:c.490-565A>G
ENST00000645408.1:c.719A>G
ENST00000645723.1:n.2425A>G
ENST00000646405.1:c.*604A>G	ENSP00000493744.1:n.*604A>G
ENST00000646512.1:n.1332A>G
ENST00000646735.1:c.853A>G	ENSP00000493763.1:p.Ile285Val
ENST00000651619.1:c.1186A>G MANE Select	ENSP00000498303.1:p.Ile396Val
ENST00000216951.6:c.1186A>G	ENSP00000216951.2:p.Ile396Val
ENST00000451957.2:c.853A>G	ENSP00000407517.2:p.Ile285Val
NM_000178.2:c.1186A>G	NP_000169.1:p.Ile396Val
XM_005260406.3:c.1186A>G	XP_005260463.1:p.Ile396Val
XM_011528796.1:c.1186A>G	XP_011527098.1:p.Ile396Val
NM_000178.4:c.1186A>G MANE Select	NP_000169.1:p.Ile396Val
NM_001322494.1:c.1186A>G	NP_001309423.1:p.Ile396Val
NM_001322495.1:c.1186A>G	NP_001309424.1:p.Ile396Val