Canonical Allele Identifier: CA408701272

Gene: GSS

Linked Data

• gnomAD v4: 20-34932069-T-C
• MyVariant Identifiers: chr20:g.33519872T>C (hg19) ; chr20:g.34932069T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932069T>C , CM000682.2:g.34932069T>C	GRCh38
NC_000020.10:g.33519872T>C , CM000682.1:g.33519872T>C	GRCh37
NC_000020.9:g.32983533T>C	NCBI36
NG_008848.1:g.28730A>G
NG_008848.2:g.28959A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*539A>G	ENSP00000493524.1:n.*539A>G
ENST00000642498.1:c.899A>G	ENSP00000493631.1:p.Gln300Arg
ENST00000642538.1:c.*243A>G	ENSP00000493927.1:n.*243A>G
ENST00000643188.1:c.899A>G	ENSP00000493903.1:p.Gln300Arg
ENST00000643443.1:c.*606A>G	ENSP00000495572.1:n.*606A>G
ENST00000643502.1:c.556A>G
ENST00000643908.1:n.1117A>G
ENST00000644538.1:n.1176A>G
ENST00000644793.1:c.899A>G	ENSP00000495750.1:p.Gln300Arg
ENST00000645328.1:c.277A>G
ENST00000645408.1:c.432A>G
ENST00000645723.1:n.2138A>G
ENST00000646405.1:c.*317A>G	ENSP00000493744.1:n.*317A>G
ENST00000646497.1:n.844A>G
ENST00000646512.1:n.1045A>G
ENST00000646735.1:c.566A>G	ENSP00000493763.1:p.Gln189Arg
ENST00000651619.1:c.899A>G MANE Select	ENSP00000498303.1:p.Gln300Arg
ENST00000216951.6:c.899A>G	ENSP00000216951.2:p.Gln300Arg
ENST00000451957.2:c.566A>G	ENSP00000407517.2:p.Gln189Arg
NM_000178.2:c.899A>G	NP_000169.1:p.Gln300Arg
XM_005260406.3:c.899A>G	XP_005260463.1:p.Gln300Arg
XM_011528796.1:c.899A>G	XP_011527098.1:p.Gln300Arg
NM_000178.4:c.899A>G MANE Select	NP_000169.1:p.Gln300Arg
NM_001322494.1:c.899A>G	NP_001309423.1:p.Gln300Arg
NM_001322495.1:c.899A>G	NP_001309424.1:p.Gln300Arg