Canonical Allele Identifier: CA510290648

Gene: GSS

Linked Data

• dbSNP Id: rs1181887976
• MyVariant Identifiers: chr20:g.33523382T>A (hg19) ; chr20:g.34935579T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935579T>A , CM000682.2:g.34935579T>A	GRCh38
NC_000020.10:g.33523382T>A , CM000682.1:g.33523382T>A	GRCh37
NC_000020.9:g.32987043T>A	NCBI36
NG_008848.1:g.25220A>T
NG_008848.2:g.25449A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1184A>T	ENSP00000493524.1:n.*474+1184A>T
ENST00000642498.1:c.831A>T	ENSP00000493631.1:p.Leu277=
ENST00000642538.1:c.*175A>T	ENSP00000493927.1:n.*175A>T
ENST00000643188.1:c.831A>T	ENSP00000493903.1:p.Leu277=
ENST00000643443.1:c.*538A>T	ENSP00000495572.1:n.*538A>T
ENST00000643502.1:c.488A>T
ENST00000643908.1:n.1052+1364A>T
ENST00000644538.1:n.1108A>T
ENST00000644793.1:c.831A>T	ENSP00000495750.1:p.Leu277=
ENST00000645328.1:c.209A>T
ENST00000645408.1:c.367+1184A>T
ENST00000645723.1:n.2070A>T
ENST00000646405.1:c.*252+1184A>T	ENSP00000493744.1:n.*252+1184A>T
ENST00000646497.1:n.776A>T
ENST00000646502.1:n.1313A>T
ENST00000646512.1:n.980+1184A>T
ENST00000646735.1:c.498A>T	ENSP00000493763.1:p.Leu166=
ENST00000651619.1:c.831A>T MANE Select	ENSP00000498303.1:p.Leu277=
ENST00000216951.6:c.831A>T	ENSP00000216951.2:p.Leu277=
ENST00000451957.2:c.498A>T	ENSP00000407517.2:p.Leu166=
NM_000178.2:c.831A>T	NP_000169.1:p.Leu277=
XM_005260406.3:c.831A>T	XP_005260463.1:p.Leu277=
XM_011528796.1:c.831A>T	XP_011527098.1:p.Leu277=
NM_000178.4:c.831A>T MANE Select	NP_000169.1:p.Leu277=
NM_001322494.1:c.831A>T	NP_001309423.1:p.Leu277=
NM_001322495.1:c.831A>T	NP_001309424.1:p.Leu277=