Canonical Allele Identifier: CA408701092

Gene: GSS

Linked Data

• dbSNP Id: rs1159069803
• gnomAD v2: 20-33519789-C-T
• gnomAD v4: 20-34931986-C-T
• MyVariant Identifiers: chr20:g.33519789C>T (hg19) ; chr20:g.34931986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931986C>T , CM000682.2:g.34931986C>T	GRCh38
NC_000020.10:g.33519789C>T , CM000682.1:g.33519789C>T	GRCh37
NC_000020.9:g.32983450C>T	NCBI36
NG_008848.1:g.28813G>A
NG_008848.2:g.29042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.982G>A	ENSP00000493631.1:p.Val328Met
ENST00000642538.1:c.*326G>A	ENSP00000493927.1:n.*326G>A
ENST00000643188.1:c.982G>A	ENSP00000493903.1:p.Val328Met
ENST00000643443.1:c.*689G>A	ENSP00000495572.1:n.*689G>A
ENST00000643502.1:c.639G>A
ENST00000643908.1:n.1200G>A
ENST00000644538.1:n.1259G>A
ENST00000644793.1:c.982G>A	ENSP00000495750.1:p.Val328Met
ENST00000645328.1:c.360G>A
ENST00000645408.1:c.515G>A
ENST00000645723.1:n.2221G>A
ENST00000646405.1:c.*400G>A	ENSP00000493744.1:n.*400G>A
ENST00000646512.1:n.1128G>A
ENST00000646735.1:c.649G>A	ENSP00000493763.1:p.Val217Met
ENST00000651619.1:c.982G>A MANE Select	ENSP00000498303.1:p.Val328Met
ENST00000216951.6:c.982G>A	ENSP00000216951.2:p.Val328Met
ENST00000451957.2:c.649G>A	ENSP00000407517.2:p.Val217Met
NM_000178.2:c.982G>A	NP_000169.1:p.Val328Met
XM_005260406.3:c.982G>A	XP_005260463.1:p.Val328Met
XM_011528796.1:c.982G>A	XP_011527098.1:p.Val328Met
NM_000178.4:c.982G>A MANE Select	NP_000169.1:p.Val328Met
NM_001322494.1:c.982G>A	NP_001309423.1:p.Val328Met
NM_001322495.1:c.982G>A	NP_001309424.1:p.Val328Met