Canonical Allele Identifier: CA313479810

Gene: GSS

Linked Data

• dbSNP Id: rs890322130
• gnomAD v3: 20-34935432-A-T
• gnomAD v4: 20-34935432-A-T
• MyVariant Identifiers: chr20:g.33523235A>T (hg19) ; chr20:g.34935432A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935432A>T , CM000682.2:g.34935432A>T	GRCh38
NC_000020.10:g.33523235A>T , CM000682.1:g.33523235A>T	GRCh37
NC_000020.9:g.32986896A>T	NCBI36
NG_008848.1:g.25367T>A
NG_008848.2:g.25596T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642493.1:c.*474+1331T>A	ENSP00000493524.1:n.*474+1331T>A
ENST00000642498.1:c.834+144T>A	ENSP00000493631.1:n.834+144T>A
ENST00000642538.1:c.*178+144T>A	ENSP00000493927.1:n.*178+144T>A
ENST00000643188.1:c.834+144T>A	ENSP00000493903.1:n.834+144T>A
ENST00000643443.1:c.*541+144T>A	ENSP00000495572.1:n.*541+144T>A
ENST00000643502.1:c.491+144T>A
ENST00000643908.1:n.1052+1511T>A
ENST00000644538.1:n.1111+144T>A
ENST00000644793.1:c.834+144T>A	ENSP00000495750.1:n.834+144T>A
ENST00000645328.1:c.212+144T>A
ENST00000645408.1:c.367+1331T>A
ENST00000645723.1:n.2073+144T>A
ENST00000646405.1:c.*252+1331T>A	ENSP00000493744.1:n.*252+1331T>A
ENST00000646497.1:n.779+144T>A
ENST00000646502.1:n.1316+144T>A
ENST00000646512.1:n.980+1331T>A
ENST00000646735.1:c.501+144T>A	ENSP00000493763.1:n.501+144T>A
ENST00000651619.1:c.834+144T>A MANE Select	ENSP00000498303.1:n.834+144T>A
ENST00000216951.6:c.834+144T>A	ENSP00000216951.2:n.834+144T>A
ENST00000451957.2:c.501+144T>A	ENSP00000407517.2:n.501+144T>A
NM_000178.2:c.834+144T>A	NP_000169.1:n.834+144T>A
XM_005260406.3:c.834+144T>A	XP_005260463.1:n.834+144T>A
XM_011528796.1:c.834+144T>A	XP_011527098.1:n.834+144T>A
NM_000178.4:c.834+144T>A MANE Select	NP_000169.1:n.834+144T>A
NM_001322494.1:c.834+144T>A	NP_001309423.1:n.834+144T>A
NM_001322495.1:c.834+144T>A	NP_001309424.1:n.834+144T>A