Canonical Allele Identifier: CA408702421

Gene: GSS

Linked Data

• gnomAD v4: 20-34935637-C-T
• MyVariant Identifiers: chr20:g.33523440C>T (hg19) ; chr20:g.34935637C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935637C>T , CM000682.2:g.34935637C>T	GRCh38
NC_000020.10:g.33523440C>T , CM000682.1:g.33523440C>T	GRCh37
NC_000020.9:g.32987101C>T	NCBI36
NG_008848.1:g.25162G>A
NG_008848.2:g.25391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1126G>A	ENSP00000493524.1:n.*474+1126G>A
ENST00000642498.1:c.773G>A	ENSP00000493631.1:p.Gly258Asp
ENST00000642538.1:c.*117G>A	ENSP00000493927.1:n.*117G>A
ENST00000643188.1:c.773G>A	ENSP00000493903.1:p.Gly258Asp
ENST00000643443.1:c.*480G>A	ENSP00000495572.1:n.*480G>A
ENST00000643502.1:c.430G>A
ENST00000643908.1:n.1052+1306G>A
ENST00000644538.1:n.1050G>A
ENST00000644793.1:c.773G>A	ENSP00000495750.1:p.Gly258Asp
ENST00000645328.1:c.151G>A
ENST00000645408.1:c.367+1126G>A
ENST00000645723.1:n.2012G>A
ENST00000646405.1:c.*252+1126G>A	ENSP00000493744.1:n.*252+1126G>A
ENST00000646497.1:n.718G>A
ENST00000646502.1:n.1255G>A
ENST00000646512.1:n.980+1126G>A
ENST00000646735.1:c.440G>A	ENSP00000493763.1:p.Gly147Asp
ENST00000646766.1:c.*403G>A	ENSP00000494333.1:n.*403G>A
ENST00000651619.1:c.773G>A MANE Select	ENSP00000498303.1:p.Gly258Asp
ENST00000216951.6:c.773G>A	ENSP00000216951.2:p.Gly258Asp
ENST00000451957.2:c.440G>A	ENSP00000407517.2:p.Gly147Asp
NM_000178.2:c.773G>A	NP_000169.1:p.Gly258Asp
XM_005260406.3:c.773G>A	XP_005260463.1:p.Gly258Asp
XM_011528796.1:c.773G>A	XP_011527098.1:p.Gly258Asp
NM_000178.4:c.773G>A MANE Select	NP_000169.1:p.Gly258Asp
NM_001322494.1:c.773G>A	NP_001309423.1:p.Gly258Asp
NM_001322495.1:c.773G>A	NP_001309424.1:p.Gly258Asp