Canonical Allele Identifier: CA408701382

Gene: GSS

Linked Data

• gnomAD v4: 20-34932121-G-C
• MyVariant Identifiers: chr20:g.33519924G>C (hg19) ; chr20:g.34932121G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932121G>C , CM000682.2:g.34932121G>C	GRCh38
NC_000020.10:g.33519924G>C , CM000682.1:g.33519924G>C	GRCh37
NC_000020.9:g.32983585G>C	NCBI36
NG_008848.1:g.28678C>G
NG_008848.2:g.28907C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642493.1:c.*487C>G	ENSP00000493524.1:n.*487C>G
ENST00000642498.1:c.847C>G	ENSP00000493631.1:p.Arg283Gly
ENST00000642538.1:c.*191C>G	ENSP00000493927.1:n.*191C>G
ENST00000643188.1:c.847C>G	ENSP00000493903.1:p.Arg283Gly
ENST00000643443.1:c.*554C>G	ENSP00000495572.1:n.*554C>G
ENST00000643502.1:c.504C>G
ENST00000643908.1:n.1065C>G
ENST00000644538.1:n.1124C>G
ENST00000644793.1:c.847C>G	ENSP00000495750.1:p.Arg283Gly
ENST00000645328.1:c.225C>G
ENST00000645408.1:c.380C>G
ENST00000645723.1:n.2086C>G
ENST00000646405.1:c.*265C>G	ENSP00000493744.1:n.*265C>G
ENST00000646497.1:n.792C>G
ENST00000646512.1:n.993C>G
ENST00000646735.1:c.514C>G	ENSP00000493763.1:p.Arg172Gly
ENST00000651619.1:c.847C>G MANE Select	ENSP00000498303.1:p.Arg283Gly
ENST00000216951.6:c.847C>G	ENSP00000216951.2:p.Arg283Gly
ENST00000451957.2:c.514C>G	ENSP00000407517.2:p.Arg172Gly
NM_000178.2:c.847C>G	NP_000169.1:p.Arg283Gly
XM_005260406.3:c.847C>G	XP_005260463.1:p.Arg283Gly
XM_011528796.1:c.847C>G	XP_011527098.1:p.Arg283Gly
NM_000178.4:c.847C>G MANE Select	NP_000169.1:p.Arg283Gly
NM_001322494.1:c.847C>G	NP_001309423.1:p.Arg283Gly
NM_001322495.1:c.847C>G	NP_001309424.1:p.Arg283Gly