Canonical Allele Identifier: CA9825787

Gene: GSS

Linked Data

• ClinVar Variation Id: 338292
• ClinVar RCV Id: RCV000368789
• dbSNP Id: rs36000727
• ExAC: 20:33516629 C / T
• gnomAD v2: 20-33516629-C-T
• gnomAD v3: 20-34928826-C-T
• gnomAD v4: 20-34928826-C-T
• MyVariant Identifiers: chr20:g.33516629C>T (hg19) ; chr20:g.34928826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34928826C>T , CM000682.2:g.34928826C>T	GRCh38
NC_000020.10:g.33516629C>T , CM000682.1:g.33516629C>T	GRCh37
NC_000020.9:g.32980290C>T	NCBI36
NG_008848.1:g.31973G>A
NG_011520.1:g.58885C>T
NG_008848.2:g.32202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.*360G>A	ENSP00000493631.1:n.*360G>A
ENST00000643188.1:c.*2G>A	ENSP00000493903.1:n.*2G>A
ENST00000643443.1:c.*1134G>A	ENSP00000495572.1:n.*1134G>A
ENST00000643502.1:c.1084G>A
ENST00000643908.1:n.1645G>A
ENST00000644538.1:n.1704G>A
ENST00000644793.1:c.*2G>A	ENSP00000495750.1:n.*2G>A
ENST00000645328.1:c.615G>A
ENST00000645723.1:n.2666G>A
ENST00000646405.1:c.*845G>A	ENSP00000493744.1:n.*845G>A
ENST00000646512.1:n.1573G>A
ENST00000646735.1:c.*2G>A	ENSP00000493763.1:n.*2G>A
ENST00000651619.1:c.*2G>A MANE Select	ENSP00000498303.1:n.*2G>A
ENST00000216951.6:c.*2G>A	ENSP00000216951.2:n.*2G>A
NM_000178.2:c.*2G>A	NP_000169.1:n.*2G>A
XM_005260406.3:c.*2G>A	XP_005260463.1:n.*2G>A
XM_011528796.1:c.*2G>A	XP_011527098.1:n.*2G>A
NM_000178.4:c.*2G>A MANE Select	NP_000169.1:n.*2G>A
NM_001322494.1:c.*2G>A	NP_001309423.1:n.*2G>A
NM_001322495.1:c.*2G>A	NP_001309424.1:n.*2G>A