Canonical Allele Identifier: CA313477831

Gene: GSS

Linked Data

• dbSNP Id: rs770380494
• gnomAD v4: 20-34932026-C-A
• MyVariant Identifiers: chr20:g.33519829C>A (hg19) ; chr20:g.34932026C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932026C>A , CM000682.2:g.34932026C>A	GRCh38
NC_000020.10:g.33519829C>A , CM000682.1:g.33519829C>A	GRCh37
NC_000020.9:g.32983490C>A	NCBI36
NG_008848.1:g.28773G>T
NG_008848.2:g.29002G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642493.1:c.*582G>T	ENSP00000493524.1:n.*582G>T
ENST00000642498.1:c.942G>T	ENSP00000493631.1:p.Pro314=
ENST00000642538.1:c.*286G>T	ENSP00000493927.1:n.*286G>T
ENST00000643188.1:c.942G>T	ENSP00000493903.1:p.Pro314=
ENST00000643443.1:c.*649G>T	ENSP00000495572.1:n.*649G>T
ENST00000643502.1:c.599G>T
ENST00000643908.1:n.1160G>T
ENST00000644538.1:n.1219G>T
ENST00000644793.1:c.942G>T	ENSP00000495750.1:p.Pro314=
ENST00000645328.1:c.320G>T
ENST00000645408.1:c.475G>T
ENST00000645723.1:n.2181G>T
ENST00000646405.1:c.*360G>T	ENSP00000493744.1:n.*360G>T
ENST00000646497.1:n.887G>T
ENST00000646512.1:n.1088G>T
ENST00000646735.1:c.609G>T	ENSP00000493763.1:p.Pro203=
ENST00000651619.1:c.942G>T MANE Select	ENSP00000498303.1:p.Pro314=
ENST00000216951.6:c.942G>T	ENSP00000216951.2:p.Pro314=
ENST00000451957.2:c.609G>T	ENSP00000407517.2:p.Pro203=
NM_000178.2:c.942G>T	NP_000169.1:p.Pro314=
XM_005260406.3:c.942G>T	XP_005260463.1:p.Pro314=
XM_011528796.1:c.942G>T	XP_011527098.1:p.Pro314=
NM_000178.4:c.942G>T MANE Select	NP_000169.1:p.Pro314=
NM_001322494.1:c.942G>T	NP_001309423.1:p.Pro314=
NM_001322495.1:c.942G>T	NP_001309424.1:p.Pro314=