Canonical Allele Identifier: CA408701341

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519902T>G (hg19) ; chr20:g.34932099T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932099T>G , CM000682.2:g.34932099T>G	GRCh38
NC_000020.10:g.33519902T>G , CM000682.1:g.33519902T>G	GRCh37
NC_000020.9:g.32983563T>G	NCBI36
NG_008848.1:g.28700A>C
NG_008848.2:g.28929A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*509A>C	ENSP00000493524.1:n.*509A>C
ENST00000642498.1:c.869A>C	ENSP00000493631.1:p.His290Pro
ENST00000642538.1:c.*213A>C	ENSP00000493927.1:n.*213A>C
ENST00000643188.1:c.869A>C	ENSP00000493903.1:p.His290Pro
ENST00000643443.1:c.*576A>C	ENSP00000495572.1:n.*576A>C
ENST00000643502.1:c.526A>C
ENST00000643908.1:n.1087A>C
ENST00000644538.1:n.1146A>C
ENST00000644793.1:c.869A>C	ENSP00000495750.1:p.His290Pro
ENST00000645328.1:c.247A>C
ENST00000645408.1:c.402A>C
ENST00000645723.1:n.2108A>C
ENST00000646405.1:c.*287A>C	ENSP00000493744.1:n.*287A>C
ENST00000646497.1:n.814A>C
ENST00000646512.1:n.1015A>C
ENST00000646735.1:c.536A>C	ENSP00000493763.1:p.His179Pro
ENST00000651619.1:c.869A>C MANE Select	ENSP00000498303.1:p.His290Pro
ENST00000216951.6:c.869A>C	ENSP00000216951.2:p.His290Pro
ENST00000451957.2:c.536A>C	ENSP00000407517.2:p.His179Pro
NM_000178.2:c.869A>C	NP_000169.1:p.His290Pro
XM_005260406.3:c.869A>C	XP_005260463.1:p.His290Pro
XM_011528796.1:c.869A>C	XP_011527098.1:p.His290Pro
NM_000178.4:c.869A>C MANE Select	NP_000169.1:p.His290Pro
NM_001322494.1:c.869A>C	NP_001309423.1:p.His290Pro
NM_001322495.1:c.869A>C	NP_001309424.1:p.His290Pro