Canonical Allele Identifier: CA408701069

Gene: GSS

Linked Data

• MyVariant Identifiers: chr20:g.33519776C>A (hg19) ; chr20:g.34931973C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931973C>A , CM000682.2:g.34931973C>A	GRCh38
NC_000020.10:g.33519776C>A , CM000682.1:g.33519776C>A	GRCh37
NC_000020.9:g.32983437C>A	NCBI36
NG_008848.1:g.28826G>T
NG_008848.2:g.29055G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.995G>T	ENSP00000493631.1:p.Arg332Leu
ENST00000642538.1:c.*339G>T	ENSP00000493927.1:n.*339G>T
ENST00000643188.1:c.995G>T	ENSP00000493903.1:p.Arg332Leu
ENST00000643443.1:c.*702G>T	ENSP00000495572.1:n.*702G>T
ENST00000643502.1:c.652G>T
ENST00000643908.1:n.1213G>T
ENST00000644538.1:n.1272G>T
ENST00000644793.1:c.995G>T	ENSP00000495750.1:p.Arg332Leu
ENST00000645328.1:c.373G>T
ENST00000645408.1:c.528G>T
ENST00000645723.1:n.2234G>T
ENST00000646405.1:c.*413G>T	ENSP00000493744.1:n.*413G>T
ENST00000646512.1:n.1141G>T
ENST00000646735.1:c.662G>T	ENSP00000493763.1:p.Arg221Leu
ENST00000651619.1:c.995G>T MANE Select	ENSP00000498303.1:p.Arg332Leu
ENST00000216951.6:c.995G>T	ENSP00000216951.2:p.Arg332Leu
ENST00000451957.2:c.662G>T	ENSP00000407517.2:p.Arg221Leu
NM_000178.2:c.995G>T	NP_000169.1:p.Arg332Leu
XM_005260406.3:c.995G>T	XP_005260463.1:p.Arg332Leu
XM_011528796.1:c.995G>T	XP_011527098.1:p.Arg332Leu
NM_000178.4:c.995G>T MANE Select	NP_000169.1:p.Arg332Leu
NM_001322494.1:c.995G>T	NP_001309423.1:p.Arg332Leu
NM_001322495.1:c.995G>T	NP_001309424.1:p.Arg332Leu