Canonical Allele Identifier: CA510290561

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519913C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932110C>G , CM000682.2:g.34932110C>G	GRCh38
NC_000020.10:g.33519913C>G , CM000682.1:g.33519913C>G	GRCh37
NC_000020.9:g.32983574C>G	NCBI36
NG_008848.1:g.28689G>C
NG_008848.2:g.28918G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*498G>C	ENSP00000493524.1:n.*498G>C
ENST00000642498.1:c.858G>C	ENSP00000493631.1:p.Leu286=
ENST00000642538.1:c.*202G>C	ENSP00000493927.1:n.*202G>C
ENST00000643188.1:c.858G>C	ENSP00000493903.1:p.Leu286=
ENST00000643443.1:c.*565G>C	ENSP00000495572.1:n.*565G>C
ENST00000643502.1:c.515G>C
ENST00000643908.1:n.1076G>C
ENST00000644538.1:n.1135G>C
ENST00000644793.1:c.858G>C	ENSP00000495750.1:p.Leu286=
ENST00000645328.1:c.236G>C
ENST00000645408.1:c.391G>C
ENST00000645723.1:n.2097G>C
ENST00000646405.1:c.*276G>C	ENSP00000493744.1:n.*276G>C
ENST00000646497.1:n.803G>C
ENST00000646512.1:n.1004G>C
ENST00000646735.1:c.525G>C	ENSP00000493763.1:p.Leu175=
ENST00000651619.1:c.858G>C MANE Select	ENSP00000498303.1:p.Leu286=
ENST00000216951.6:c.858G>C	ENSP00000216951.2:p.Leu286=
ENST00000451957.2:c.525G>C	ENSP00000407517.2:p.Leu175=
NM_000178.2:c.858G>C	NP_000169.1:p.Leu286=
XM_005260406.3:c.858G>C	XP_005260463.1:p.Leu286=
XM_011528796.1:c.858G>C	XP_011527098.1:p.Leu286=
NM_000178.4:c.858G>C MANE Select	NP_000169.1:p.Leu286=
NM_001322494.1:c.858G>C	NP_001309423.1:p.Leu286=
NM_001322495.1:c.858G>C	NP_001309424.1:p.Leu286=