Canonical Allele Identifier: CA408702216

Gene: GSS

Linked Data

• dbSNP Id: rs1193273971
• gnomAD v2: 20-33523390-A-G
• gnomAD v3: 20-34935587-A-G
• gnomAD v4: 20-34935587-A-G
• MyVariant Identifiers: chr20:g.33523390A>G (hg19) ; chr20:g.34935587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935587A>G , CM000682.2:g.34935587A>G	GRCh38
NC_000020.10:g.33523390A>G , CM000682.1:g.33523390A>G	GRCh37
NC_000020.9:g.32987051A>G	NCBI36
NG_008848.1:g.25212T>C
NG_008848.2:g.25441T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1176T>C	ENSP00000493524.1:n.*474+1176T>C
ENST00000642498.1:c.823T>C	ENSP00000493631.1:p.Tyr275His
ENST00000642538.1:c.*167T>C	ENSP00000493927.1:n.*167T>C
ENST00000643188.1:c.823T>C	ENSP00000493903.1:p.Tyr275His
ENST00000643443.1:c.*530T>C	ENSP00000495572.1:n.*530T>C
ENST00000643502.1:c.480T>C
ENST00000643908.1:n.1052+1356T>C
ENST00000644538.1:n.1100T>C
ENST00000644793.1:c.823T>C	ENSP00000495750.1:p.Tyr275His
ENST00000645328.1:c.201T>C
ENST00000645408.1:c.367+1176T>C
ENST00000645723.1:n.2062T>C
ENST00000646405.1:c.*252+1176T>C	ENSP00000493744.1:n.*252+1176T>C
ENST00000646497.1:n.768T>C
ENST00000646502.1:n.1305T>C
ENST00000646512.1:n.980+1176T>C
ENST00000646735.1:c.490T>C	ENSP00000493763.1:p.Tyr164His
ENST00000651619.1:c.823T>C MANE Select	ENSP00000498303.1:p.Tyr275His
ENST00000216951.6:c.823T>C	ENSP00000216951.2:p.Tyr275His
ENST00000451957.2:c.490T>C	ENSP00000407517.2:p.Tyr164His
NM_000178.2:c.823T>C	NP_000169.1:p.Tyr275His
XM_005260406.3:c.823T>C	XP_005260463.1:p.Tyr275His
XM_011528796.1:c.823T>C	XP_011527098.1:p.Tyr275His
NM_000178.4:c.823T>C MANE Select	NP_000169.1:p.Tyr275His
NM_001322494.1:c.823T>C	NP_001309423.1:p.Tyr275His
NM_001322495.1:c.823T>C	NP_001309424.1:p.Tyr275His