Canonical Allele Identifier: CA510290527

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519886T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932083T>G , CM000682.2:g.34932083T>G	GRCh38
NC_000020.10:g.33519886T>G , CM000682.1:g.33519886T>G	GRCh37
NC_000020.9:g.32983547T>G	NCBI36
NG_008848.1:g.28716A>C
NG_008848.2:g.28945A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*525A>C	ENSP00000493524.1:n.*525A>C
ENST00000642498.1:c.885A>C	ENSP00000493631.1:p.Pro295=
ENST00000642538.1:c.*229A>C	ENSP00000493927.1:n.*229A>C
ENST00000643188.1:c.885A>C	ENSP00000493903.1:p.Pro295=
ENST00000643443.1:c.*592A>C	ENSP00000495572.1:n.*592A>C
ENST00000643502.1:c.542A>C
ENST00000643908.1:n.1103A>C
ENST00000644538.1:n.1162A>C
ENST00000644793.1:c.885A>C	ENSP00000495750.1:p.Pro295=
ENST00000645328.1:c.263A>C
ENST00000645408.1:c.418A>C
ENST00000645723.1:n.2124A>C
ENST00000646405.1:c.*303A>C	ENSP00000493744.1:n.*303A>C
ENST00000646497.1:n.830A>C
ENST00000646512.1:n.1031A>C
ENST00000646735.1:c.552A>C	ENSP00000493763.1:p.Pro184=
ENST00000651619.1:c.885A>C MANE Select	ENSP00000498303.1:p.Pro295=
ENST00000216951.6:c.885A>C	ENSP00000216951.2:p.Pro295=
ENST00000451957.2:c.552A>C	ENSP00000407517.2:p.Pro184=
NM_000178.2:c.885A>C	NP_000169.1:p.Pro295=
XM_005260406.3:c.885A>C	XP_005260463.1:p.Pro295=
XM_011528796.1:c.885A>C	XP_011527098.1:p.Pro295=
NM_000178.4:c.885A>C MANE Select	NP_000169.1:p.Pro295=
NM_001322494.1:c.885A>C	NP_001309423.1:p.Pro295=
NM_001322495.1:c.885A>C	NP_001309424.1:p.Pro295=