Canonical Allele Identifier: CA1017157112

Gene: GSS

Linked Data

• dbSNP Id: rs2081431334
• gnomAD v3: 20-34935195-T-C
• gnomAD v4: 20-34935195-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935195T>C , CM000682.2:g.34935195T>C	GRCh38
NC_000020.10:g.33522998T>C , CM000682.1:g.33522998T>C	GRCh37
NC_000020.9:g.32986659T>C	NCBI36
NG_008848.1:g.25604A>G
NG_008848.2:g.25833A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1568A>G	ENSP00000493524.1:n.*474+1568A>G
ENST00000642498.1:c.834+381A>G	ENSP00000493631.1:n.834+381A>G
ENST00000642538.1:c.*178+381A>G	ENSP00000493927.1:n.*178+381A>G
ENST00000643188.1:c.834+381A>G	ENSP00000493903.1:n.834+381A>G
ENST00000643443.1:c.*541+381A>G	ENSP00000495572.1:n.*541+381A>G
ENST00000643502.1:c.491+381A>G
ENST00000643908.1:n.1052+1748A>G
ENST00000644538.1:n.1111+381A>G
ENST00000644793.1:c.834+381A>G	ENSP00000495750.1:n.834+381A>G
ENST00000645328.1:c.212+381A>G
ENST00000645408.1:c.367+1568A>G
ENST00000645723.1:n.2073+381A>G
ENST00000646405.1:c.*252+1568A>G	ENSP00000493744.1:n.*252+1568A>G
ENST00000646497.1:n.779+381A>G
ENST00000646502.1:n.1316+381A>G
ENST00000646512.1:n.980+1568A>G
ENST00000646735.1:c.501+381A>G	ENSP00000493763.1:n.501+381A>G
ENST00000651619.1:c.834+381A>G MANE Select	ENSP00000498303.1:n.834+381A>G
ENST00000216951.6:c.834+381A>G	ENSP00000216951.2:n.834+381A>G
ENST00000451957.2:c.501+381A>G	ENSP00000407517.2:n.501+381A>G
NM_000178.2:c.834+381A>G	NP_000169.1:n.834+381A>G
XM_005260406.3:c.834+381A>G	XP_005260463.1:n.834+381A>G
XM_011528796.1:c.834+381A>G	XP_011527098.1:n.834+381A>G
NM_000178.4:c.834+381A>G MANE Select	NP_000169.1:n.834+381A>G
NM_001322494.1:c.834+381A>G	NP_001309423.1:n.834+381A>G
NM_001322495.1:c.834+381A>G	NP_001309424.1:n.834+381A>G