Canonical Allele Identifier: CA408701233

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519854T>A (hg19) ; chr20:g.34932051T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932051T>A , CM000682.2:g.34932051T>A	GRCh38
NC_000020.10:g.33519854T>A , CM000682.1:g.33519854T>A	GRCh37
NC_000020.9:g.32983515T>A	NCBI36
NG_008848.1:g.28748A>T
NG_008848.2:g.28977A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*557A>T	ENSP00000493524.1:n.*557A>T
ENST00000642498.1:c.917A>T	ENSP00000493631.1:p.Lys306Met
ENST00000642538.1:c.*261A>T	ENSP00000493927.1:n.*261A>T
ENST00000643188.1:c.917A>T	ENSP00000493903.1:p.Lys306Met
ENST00000643443.1:c.*624A>T	ENSP00000495572.1:n.*624A>T
ENST00000643502.1:c.574A>T
ENST00000643908.1:n.1135A>T
ENST00000644538.1:n.1194A>T
ENST00000644793.1:c.917A>T	ENSP00000495750.1:p.Lys306Met
ENST00000645328.1:c.295A>T
ENST00000645408.1:c.450A>T
ENST00000645723.1:n.2156A>T
ENST00000646405.1:c.*335A>T	ENSP00000493744.1:n.*335A>T
ENST00000646497.1:n.862A>T
ENST00000646512.1:n.1063A>T
ENST00000646735.1:c.584A>T	ENSP00000493763.1:p.Lys195Met
ENST00000651619.1:c.917A>T MANE Select	ENSP00000498303.1:p.Lys306Met
ENST00000216951.6:c.917A>T	ENSP00000216951.2:p.Lys306Met
ENST00000451957.2:c.584A>T	ENSP00000407517.2:p.Lys195Met
NM_000178.2:c.917A>T	NP_000169.1:p.Lys306Met
XM_005260406.3:c.917A>T	XP_005260463.1:p.Lys306Met
XM_011528796.1:c.917A>T	XP_011527098.1:p.Lys306Met
NM_000178.4:c.917A>T MANE Select	NP_000169.1:p.Lys306Met
NM_001322494.1:c.917A>T	NP_001309423.1:p.Lys306Met
NM_001322495.1:c.917A>T	NP_001309424.1:p.Lys306Met