Canonical Allele Identifier: CA9825929

Gene: GSS

Linked Data

• dbSNP Id: rs757274995
• ExAC: 20:33519837 T / A
• gnomAD v2: 20-33519837-T-A
• gnomAD v4: 20-34932034-T-A
• MyVariant Identifiers: chr20:g.33519837T>A (hg19) ; chr20:g.34932034T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932034T>A , CM000682.2:g.34932034T>A	GRCh38
NC_000020.10:g.33519837T>A , CM000682.1:g.33519837T>A	GRCh37
NC_000020.9:g.32983498T>A	NCBI36
NG_008848.1:g.28765A>T
NG_008848.2:g.28994A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642493.1:c.*574A>T	ENSP00000493524.1:n.*574A>T
ENST00000642498.1:c.934A>T	ENSP00000493631.1:p.Ser312Cys
ENST00000642538.1:c.*278A>T	ENSP00000493927.1:n.*278A>T
ENST00000643188.1:c.934A>T	ENSP00000493903.1:p.Ser312Cys
ENST00000643443.1:c.*641A>T	ENSP00000495572.1:n.*641A>T
ENST00000643502.1:c.591A>T
ENST00000643908.1:n.1152A>T
ENST00000644538.1:n.1211A>T
ENST00000644793.1:c.934A>T	ENSP00000495750.1:p.Ser312Cys
ENST00000645328.1:c.312A>T
ENST00000645408.1:c.467A>T
ENST00000645723.1:n.2173A>T
ENST00000646405.1:c.*352A>T	ENSP00000493744.1:n.*352A>T
ENST00000646497.1:n.879A>T
ENST00000646512.1:n.1080A>T
ENST00000646735.1:c.601A>T	ENSP00000493763.1:p.Ser201Cys
ENST00000651619.1:c.934A>T MANE Select	ENSP00000498303.1:p.Ser312Cys
ENST00000216951.6:c.934A>T	ENSP00000216951.2:p.Ser312Cys
ENST00000451957.2:c.601A>T	ENSP00000407517.2:p.Ser201Cys
NM_000178.2:c.934A>T	NP_000169.1:p.Ser312Cys
XM_005260406.3:c.934A>T	XP_005260463.1:p.Ser312Cys
XM_011528796.1:c.934A>T	XP_011527098.1:p.Ser312Cys
NM_000178.4:c.934A>T MANE Select	NP_000169.1:p.Ser312Cys
NM_001322494.1:c.934A>T	NP_001309423.1:p.Ser312Cys
NM_001322495.1:c.934A>T	NP_001309424.1:p.Ser312Cys