Canonical Allele Identifier: CA408701333

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519899G>C (hg19) ; chr20:g.34932096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932096G>C , CM000682.2:g.34932096G>C	GRCh38
NC_000020.10:g.33519899G>C , CM000682.1:g.33519899G>C	GRCh37
NC_000020.9:g.32983560G>C	NCBI36
NG_008848.1:g.28703C>G
NG_008848.2:g.28932C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*512C>G	ENSP00000493524.1:n.*512C>G
ENST00000642498.1:c.872C>G	ENSP00000493631.1:p.Ala291Gly
ENST00000642538.1:c.*216C>G	ENSP00000493927.1:n.*216C>G
ENST00000643188.1:c.872C>G	ENSP00000493903.1:p.Ala291Gly
ENST00000643443.1:c.*579C>G	ENSP00000495572.1:n.*579C>G
ENST00000643502.1:c.529C>G
ENST00000643908.1:n.1090C>G
ENST00000644538.1:n.1149C>G
ENST00000644793.1:c.872C>G	ENSP00000495750.1:p.Ala291Gly
ENST00000645328.1:c.250C>G
ENST00000645408.1:c.405C>G
ENST00000645723.1:n.2111C>G
ENST00000646405.1:c.*290C>G	ENSP00000493744.1:n.*290C>G
ENST00000646497.1:n.817C>G
ENST00000646512.1:n.1018C>G
ENST00000646735.1:c.539C>G	ENSP00000493763.1:p.Ala180Gly
ENST00000651619.1:c.872C>G MANE Select	ENSP00000498303.1:p.Ala291Gly
ENST00000216951.6:c.872C>G	ENSP00000216951.2:p.Ala291Gly
ENST00000451957.2:c.539C>G	ENSP00000407517.2:p.Ala180Gly
NM_000178.2:c.872C>G	NP_000169.1:p.Ala291Gly
XM_005260406.3:c.872C>G	XP_005260463.1:p.Ala291Gly
XM_011528796.1:c.872C>G	XP_011527098.1:p.Ala291Gly
NM_000178.4:c.872C>G MANE Select	NP_000169.1:p.Ala291Gly
NM_001322494.1:c.872C>G	NP_001309423.1:p.Ala291Gly
NM_001322495.1:c.872C>G	NP_001309424.1:p.Ala291Gly