Canonical Allele Identifier: CA510290523

Gene: GSS

Linked Data

• dbSNP Id: rs1166633595
• gnomAD v2: 20-33519883-G-A
• gnomAD v3: 20-34932080-G-A
• gnomAD v4: 20-34932080-G-A
• MyVariant Identifiers: chr20:g.33519883G>A (hg19) ; chr20:g.34932080G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932080G>A , CM000682.2:g.34932080G>A	GRCh38
NC_000020.10:g.33519883G>A , CM000682.1:g.33519883G>A	GRCh37
NC_000020.9:g.32983544G>A	NCBI36
NG_008848.1:g.28719C>T
NG_008848.2:g.28948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*528C>T	ENSP00000493524.1:n.*528C>T
ENST00000642498.1:c.888C>T	ENSP00000493631.1:p.Asp296=
ENST00000642538.1:c.*232C>T	ENSP00000493927.1:n.*232C>T
ENST00000643188.1:c.888C>T	ENSP00000493903.1:p.Asp296=
ENST00000643443.1:c.*595C>T	ENSP00000495572.1:n.*595C>T
ENST00000643502.1:c.545C>T
ENST00000643908.1:n.1106C>T
ENST00000644538.1:n.1165C>T
ENST00000644793.1:c.888C>T	ENSP00000495750.1:p.Asp296=
ENST00000645328.1:c.266C>T
ENST00000645408.1:c.421C>T
ENST00000645723.1:n.2127C>T
ENST00000646405.1:c.*306C>T	ENSP00000493744.1:n.*306C>T
ENST00000646497.1:n.833C>T
ENST00000646512.1:n.1034C>T
ENST00000646735.1:c.555C>T	ENSP00000493763.1:p.Asp185=
ENST00000651619.1:c.888C>T MANE Select	ENSP00000498303.1:p.Asp296=
ENST00000216951.6:c.888C>T	ENSP00000216951.2:p.Asp296=
ENST00000451957.2:c.555C>T	ENSP00000407517.2:p.Asp185=
NM_000178.2:c.888C>T	NP_000169.1:p.Asp296=
XM_005260406.3:c.888C>T	XP_005260463.1:p.Asp296=
XM_011528796.1:c.888C>T	XP_011527098.1:p.Asp296=
NM_000178.4:c.888C>T MANE Select	NP_000169.1:p.Asp296=
NM_001322494.1:c.888C>T	NP_001309423.1:p.Asp296=
NM_001322495.1:c.888C>T	NP_001309424.1:p.Asp296=