Canonical Allele Identifier: CA408701270

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519871C>G (hg19) ; chr20:g.34932068C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932068C>G , CM000682.2:g.34932068C>G	GRCh38
NC_000020.10:g.33519871C>G , CM000682.1:g.33519871C>G	GRCh37
NC_000020.9:g.32983532C>G	NCBI36
NG_008848.1:g.28731G>C
NG_008848.2:g.28960G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*540G>C	ENSP00000493524.1:n.*540G>C
ENST00000642498.1:c.900G>C	ENSP00000493631.1:p.Gln300His
ENST00000642538.1:c.*244G>C	ENSP00000493927.1:n.*244G>C
ENST00000643188.1:c.900G>C	ENSP00000493903.1:p.Gln300His
ENST00000643443.1:c.*607G>C	ENSP00000495572.1:n.*607G>C
ENST00000643502.1:c.557G>C
ENST00000643908.1:n.1118G>C
ENST00000644538.1:n.1177G>C
ENST00000644793.1:c.900G>C	ENSP00000495750.1:p.Gln300His
ENST00000645328.1:c.278G>C
ENST00000645408.1:c.433G>C
ENST00000645723.1:n.2139G>C
ENST00000646405.1:c.*318G>C	ENSP00000493744.1:n.*318G>C
ENST00000646497.1:n.845G>C
ENST00000646512.1:n.1046G>C
ENST00000646735.1:c.567G>C	ENSP00000493763.1:p.Gln189His
ENST00000651619.1:c.900G>C MANE Select	ENSP00000498303.1:p.Gln300His
ENST00000216951.6:c.900G>C	ENSP00000216951.2:p.Gln300His
ENST00000451957.2:c.567G>C	ENSP00000407517.2:p.Gln189His
NM_000178.2:c.900G>C	NP_000169.1:p.Gln300His
XM_005260406.3:c.900G>C	XP_005260463.1:p.Gln300His
XM_011528796.1:c.900G>C	XP_011527098.1:p.Gln300His
NM_000178.4:c.900G>C MANE Select	NP_000169.1:p.Gln300His
NM_001322494.1:c.900G>C	NP_001309423.1:p.Gln300His
NM_001322495.1:c.900G>C	NP_001309424.1:p.Gln300His