Canonical Allele Identifier: CA408701107

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519797G>A (hg19) ; chr20:g.34931994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931994G>A , CM000682.2:g.34931994G>A	GRCh38
NC_000020.10:g.33519797G>A , CM000682.1:g.33519797G>A	GRCh37
NC_000020.9:g.32983458G>A	NCBI36
NG_008848.1:g.28805C>T
NG_008848.2:g.29034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.974C>T	ENSP00000493631.1:p.Pro325Leu
ENST00000642538.1:c.*318C>T	ENSP00000493927.1:n.*318C>T
ENST00000643188.1:c.974C>T	ENSP00000493903.1:p.Pro325Leu
ENST00000643443.1:c.*681C>T	ENSP00000495572.1:n.*681C>T
ENST00000643502.1:c.631C>T
ENST00000643908.1:n.1192C>T
ENST00000644538.1:n.1251C>T
ENST00000644793.1:c.974C>T	ENSP00000495750.1:p.Pro325Leu
ENST00000645328.1:c.352C>T
ENST00000645408.1:c.507C>T
ENST00000645723.1:n.2213C>T
ENST00000646405.1:c.*392C>T	ENSP00000493744.1:n.*392C>T
ENST00000646512.1:n.1120C>T
ENST00000646735.1:c.641C>T	ENSP00000493763.1:p.Pro214Leu
ENST00000651619.1:c.974C>T MANE Select	ENSP00000498303.1:p.Pro325Leu
ENST00000216951.6:c.974C>T	ENSP00000216951.2:p.Pro325Leu
ENST00000451957.2:c.641C>T	ENSP00000407517.2:p.Pro214Leu
NM_000178.2:c.974C>T	NP_000169.1:p.Pro325Leu
XM_005260406.3:c.974C>T	XP_005260463.1:p.Pro325Leu
XM_011528796.1:c.974C>T	XP_011527098.1:p.Pro325Leu
NM_000178.4:c.974C>T MANE Select	NP_000169.1:p.Pro325Leu
NM_001322494.1:c.974C>T	NP_001309423.1:p.Pro325Leu
NM_001322495.1:c.974C>T	NP_001309424.1:p.Pro325Leu