Canonical Allele Identifier: CA408701366

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519914A>C (hg19) ; chr20:g.34932111A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932111A>C , CM000682.2:g.34932111A>C	GRCh38
NC_000020.10:g.33519914A>C , CM000682.1:g.33519914A>C	GRCh37
NC_000020.9:g.32983575A>C	NCBI36
NG_008848.1:g.28688T>G
NG_008848.2:g.28917T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*497T>G	ENSP00000493524.1:n.*497T>G
ENST00000642498.1:c.857T>G	ENSP00000493631.1:p.Leu286Arg
ENST00000642538.1:c.*201T>G	ENSP00000493927.1:n.*201T>G
ENST00000643188.1:c.857T>G	ENSP00000493903.1:p.Leu286Arg
ENST00000643443.1:c.*564T>G	ENSP00000495572.1:n.*564T>G
ENST00000643502.1:c.514T>G
ENST00000643908.1:n.1075T>G
ENST00000644538.1:n.1134T>G
ENST00000644793.1:c.857T>G	ENSP00000495750.1:p.Leu286Arg
ENST00000645328.1:c.235T>G
ENST00000645408.1:c.390T>G
ENST00000645723.1:n.2096T>G
ENST00000646405.1:c.*275T>G	ENSP00000493744.1:n.*275T>G
ENST00000646497.1:n.802T>G
ENST00000646512.1:n.1003T>G
ENST00000646735.1:c.524T>G	ENSP00000493763.1:p.Leu175Arg
ENST00000651619.1:c.857T>G MANE Select	ENSP00000498303.1:p.Leu286Arg
ENST00000216951.6:c.857T>G	ENSP00000216951.2:p.Leu286Arg
ENST00000451957.2:c.524T>G	ENSP00000407517.2:p.Leu175Arg
NM_000178.2:c.857T>G	NP_000169.1:p.Leu286Arg
XM_005260406.3:c.857T>G	XP_005260463.1:p.Leu286Arg
XM_011528796.1:c.857T>G	XP_011527098.1:p.Leu286Arg
NM_000178.4:c.857T>G MANE Select	NP_000169.1:p.Leu286Arg
NM_001322494.1:c.857T>G	NP_001309423.1:p.Leu286Arg
NM_001322495.1:c.857T>G	NP_001309424.1:p.Leu286Arg