Canonical Allele Identifier: CA313479765

Gene: GSS

Linked Data

• dbSNP Id: rs904442981
• gnomAD v2: 20-33523159-A-C
• gnomAD v3: 20-34935356-A-C
• gnomAD v4: 20-34935356-A-C
• MyVariant Identifiers: chr20:g.33523159A>C (hg19) ; chr20:g.34935356A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935356A>C , CM000682.2:g.34935356A>C	GRCh38
NC_000020.10:g.33523159A>C , CM000682.1:g.33523159A>C	GRCh37
NC_000020.9:g.32986820A>C	NCBI36
NG_008848.1:g.25443T>G
NG_008848.2:g.25672T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1407T>G	ENSP00000493524.1:n.*474+1407T>G
ENST00000642498.1:c.834+220T>G	ENSP00000493631.1:n.834+220T>G
ENST00000642538.1:c.*178+220T>G	ENSP00000493927.1:n.*178+220T>G
ENST00000643188.1:c.834+220T>G	ENSP00000493903.1:n.834+220T>G
ENST00000643443.1:c.*541+220T>G	ENSP00000495572.1:n.*541+220T>G
ENST00000643502.1:c.491+220T>G
ENST00000643908.1:n.1052+1587T>G
ENST00000644538.1:n.1111+220T>G
ENST00000644793.1:c.834+220T>G	ENSP00000495750.1:n.834+220T>G
ENST00000645328.1:c.212+220T>G
ENST00000645408.1:c.367+1407T>G
ENST00000645723.1:n.2073+220T>G
ENST00000646405.1:c.*252+1407T>G	ENSP00000493744.1:n.*252+1407T>G
ENST00000646497.1:n.779+220T>G
ENST00000646502.1:n.1316+220T>G
ENST00000646512.1:n.980+1407T>G
ENST00000646735.1:c.501+220T>G	ENSP00000493763.1:n.501+220T>G
ENST00000651619.1:c.834+220T>G MANE Select	ENSP00000498303.1:n.834+220T>G
ENST00000216951.6:c.834+220T>G	ENSP00000216951.2:n.834+220T>G
ENST00000451957.2:c.501+220T>G	ENSP00000407517.2:n.501+220T>G
NM_000178.2:c.834+220T>G	NP_000169.1:n.834+220T>G
XM_005260406.3:c.834+220T>G	XP_005260463.1:n.834+220T>G
XM_011528796.1:c.834+220T>G	XP_011527098.1:n.834+220T>G
NM_000178.4:c.834+220T>G MANE Select	NP_000169.1:n.834+220T>G
NM_001322494.1:c.834+220T>G	NP_001309423.1:n.834+220T>G
NM_001322495.1:c.834+220T>G	NP_001309424.1:n.834+220T>G