Canonical Allele Identifier: CA743875348

Gene: GSS

Linked Data

• dbSNP Id: rs1365243429
• MyVariant Identifiers: chr20:g.33523490A>G (hg19) ; chr20:g.34935687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935687A>G , CM000682.2:g.34935687A>G	GRCh38
NC_000020.10:g.33523490A>G , CM000682.1:g.33523490A>G	GRCh37
NC_000020.9:g.32987151A>G	NCBI36
NG_008848.1:g.25112T>C
NG_008848.2:g.25341T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1076T>C	ENSP00000493524.1:n.*474+1076T>C
ENST00000642498.1:c.768-45T>C	ENSP00000493631.1:n.768-45T>C
ENST00000642538.1:c.*112-45T>C	ENSP00000493927.1:n.*112-45T>C
ENST00000643188.1:c.768-45T>C	ENSP00000493903.1:n.768-45T>C
ENST00000643443.1:c.*475-45T>C	ENSP00000495572.1:n.*475-45T>C
ENST00000643502.1:c.425-45T>C
ENST00000643908.1:n.1052+1256T>C
ENST00000644538.1:n.1045-45T>C
ENST00000644793.1:c.768-45T>C	ENSP00000495750.1:n.768-45T>C
ENST00000645328.1:c.146-45T>C
ENST00000645408.1:c.367+1076T>C
ENST00000645723.1:n.2007-45T>C
ENST00000646405.1:c.*252+1076T>C	ENSP00000493744.1:n.*252+1076T>C
ENST00000646497.1:n.713-45T>C
ENST00000646502.1:n.1250-45T>C
ENST00000646512.1:n.980+1076T>C
ENST00000646735.1:c.435-45T>C	ENSP00000493763.1:n.435-45T>C
ENST00000646766.1:c.*398-45T>C	ENSP00000494333.1:n.*398-45T>C
ENST00000651619.1:c.768-45T>C MANE Select	ENSP00000498303.1:n.768-45T>C
ENST00000216951.6:c.768-45T>C	ENSP00000216951.2:n.768-45T>C
ENST00000451957.2:c.435-45T>C	ENSP00000407517.2:n.435-45T>C
NM_000178.2:c.768-45T>C	NP_000169.1:n.768-45T>C
XM_005260406.3:c.768-45T>C	XP_005260463.1:n.768-45T>C
XM_011528796.1:c.768-45T>C	XP_011527098.1:n.768-45T>C
NM_000178.4:c.768-45T>C MANE Select	NP_000169.1:n.768-45T>C
NM_001322494.1:c.768-45T>C	NP_001309423.1:n.768-45T>C
NM_001322495.1:c.768-45T>C	NP_001309424.1:n.768-45T>C