Canonical Allele Identifier: CA510290672

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33523424C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935621C>A , CM000682.2:g.34935621C>A	GRCh38
NC_000020.10:g.33523424C>A , CM000682.1:g.33523424C>A	GRCh37
NC_000020.9:g.32987085C>A	NCBI36
NG_008848.1:g.25178G>T
NG_008848.2:g.25407G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642493.1:c.*474+1142G>T	ENSP00000493524.1:n.*474+1142G>T
ENST00000642498.1:c.789G>T	ENSP00000493631.1:p.Val263=
ENST00000642538.1:c.*133G>T	ENSP00000493927.1:n.*133G>T
ENST00000643188.1:c.789G>T	ENSP00000493903.1:p.Val263=
ENST00000643443.1:c.*496G>T	ENSP00000495572.1:n.*496G>T
ENST00000643502.1:c.446G>T
ENST00000643908.1:n.1052+1322G>T
ENST00000644538.1:n.1066G>T
ENST00000644793.1:c.789G>T	ENSP00000495750.1:p.Val263=
ENST00000645328.1:c.167G>T
ENST00000645408.1:c.367+1142G>T
ENST00000645723.1:n.2028G>T
ENST00000646405.1:c.*252+1142G>T	ENSP00000493744.1:n.*252+1142G>T
ENST00000646497.1:n.734G>T
ENST00000646502.1:n.1271G>T
ENST00000646512.1:n.980+1142G>T
ENST00000646735.1:c.456G>T	ENSP00000493763.1:p.Val152=
ENST00000646766.1:c.*419G>T	ENSP00000494333.1:n.*419G>T
ENST00000651619.1:c.789G>T MANE Select	ENSP00000498303.1:p.Val263=
ENST00000216951.6:c.789G>T	ENSP00000216951.2:p.Val263=
ENST00000451957.2:c.456G>T	ENSP00000407517.2:p.Val152=
NM_000178.2:c.789G>T	NP_000169.1:p.Val263=
XM_005260406.3:c.789G>T	XP_005260463.1:p.Val263=
XM_011528796.1:c.789G>T	XP_011527098.1:p.Val263=
NM_000178.4:c.789G>T MANE Select	NP_000169.1:p.Val263=
NM_001322494.1:c.789G>T	NP_001309423.1:p.Val263=
NM_001322495.1:c.789G>T	NP_001309424.1:p.Val263=