Canonical Allele Identifier: CA408701135

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519810G>T (hg19) ; chr20:g.34932007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34932007G>T , CM000682.2:g.34932007G>T	GRCh38
NC_000020.10:g.33519810G>T , CM000682.1:g.33519810G>T	GRCh37
NC_000020.9:g.32983471G>T	NCBI36
NG_008848.1:g.28792C>A
NG_008848.2:g.29021C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.961C>A	ENSP00000493631.1:p.Leu321Ile
ENST00000642538.1:c.*305C>A	ENSP00000493927.1:n.*305C>A
ENST00000643188.1:c.961C>A	ENSP00000493903.1:p.Leu321Ile
ENST00000643443.1:c.*668C>A	ENSP00000495572.1:n.*668C>A
ENST00000643502.1:c.618C>A
ENST00000643908.1:n.1179C>A
ENST00000644538.1:n.1238C>A
ENST00000644793.1:c.961C>A	ENSP00000495750.1:p.Leu321Ile
ENST00000645328.1:c.339C>A
ENST00000645408.1:c.494C>A
ENST00000645723.1:n.2200C>A
ENST00000646405.1:c.*379C>A	ENSP00000493744.1:n.*379C>A
ENST00000646512.1:n.1107C>A
ENST00000646735.1:c.628C>A	ENSP00000493763.1:p.Leu210Ile
ENST00000651619.1:c.961C>A MANE Select	ENSP00000498303.1:p.Leu321Ile
ENST00000216951.6:c.961C>A	ENSP00000216951.2:p.Leu321Ile
ENST00000451957.2:c.628C>A	ENSP00000407517.2:p.Leu210Ile
NM_000178.2:c.961C>A	NP_000169.1:p.Leu321Ile
XM_005260406.3:c.961C>A	XP_005260463.1:p.Leu321Ile
XM_011528796.1:c.961C>A	XP_011527098.1:p.Leu321Ile
NM_000178.4:c.961C>A MANE Select	NP_000169.1:p.Leu321Ile
NM_001322494.1:c.961C>A	NP_001309423.1:p.Leu321Ile
NM_001322495.1:c.961C>A	NP_001309424.1:p.Leu321Ile