Canonical Allele Identifier: CA408701260

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519866G>T (hg19) ; chr20:g.34932063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932063G>T , CM000682.2:g.34932063G>T	GRCh38
NC_000020.10:g.33519866G>T , CM000682.1:g.33519866G>T	GRCh37
NC_000020.9:g.32983527G>T	NCBI36
NG_008848.1:g.28736C>A
NG_008848.2:g.28965C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*545C>A	ENSP00000493524.1:n.*545C>A
ENST00000642498.1:c.905C>A	ENSP00000493631.1:p.Ala302Asp
ENST00000642538.1:c.*249C>A	ENSP00000493927.1:n.*249C>A
ENST00000643188.1:c.905C>A	ENSP00000493903.1:p.Ala302Asp
ENST00000643443.1:c.*612C>A	ENSP00000495572.1:n.*612C>A
ENST00000643502.1:c.562C>A
ENST00000643908.1:n.1123C>A
ENST00000644538.1:n.1182C>A
ENST00000644793.1:c.905C>A	ENSP00000495750.1:p.Ala302Asp
ENST00000645328.1:c.283C>A
ENST00000645408.1:c.438C>A
ENST00000645723.1:n.2144C>A
ENST00000646405.1:c.*323C>A	ENSP00000493744.1:n.*323C>A
ENST00000646497.1:n.850C>A
ENST00000646512.1:n.1051C>A
ENST00000646735.1:c.572C>A	ENSP00000493763.1:p.Ala191Asp
ENST00000651619.1:c.905C>A MANE Select	ENSP00000498303.1:p.Ala302Asp
ENST00000216951.6:c.905C>A	ENSP00000216951.2:p.Ala302Asp
ENST00000451957.2:c.572C>A	ENSP00000407517.2:p.Ala191Asp
NM_000178.2:c.905C>A	NP_000169.1:p.Ala302Asp
XM_005260406.3:c.905C>A	XP_005260463.1:p.Ala302Asp
XM_011528796.1:c.905C>A	XP_011527098.1:p.Ala302Asp
NM_000178.4:c.905C>A MANE Select	NP_000169.1:p.Ala302Asp
NM_001322494.1:c.905C>A	NP_001309423.1:p.Ala302Asp
NM_001322495.1:c.905C>A	NP_001309424.1:p.Ala302Asp