Canonical Allele Identifier: CA408704165

Gene: GSS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34942488C>A , CM000682.2:g.34942488C>A	GRCh38
NC_000020.10:g.33530291C>A , CM000682.1:g.33530291C>A	GRCh37
NC_000020.9:g.32993952C>A	NCBI36
NG_008848.1:g.18311G>T
NG_008848.2:g.18540G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000178.4:c.491G>T MANE Select	NP_000169.1:p.Arg164Leu
ENST00000651619.1:c.491G>T MANE Select	ENSP00000498303.1:p.Arg164Leu
NM_000178.2:c.491G>T	NP_000169.1:p.Arg164Leu
NM_001322494.1:c.491G>T	NP_001309423.1:p.Arg164Leu
NM_001322495.1:c.491G>T	NP_001309424.1:p.Arg164Leu
ENST00000216951.6:c.491G>T	ENSP00000216951.2:p.Arg164Leu
ENST00000451957.2:c.275+3465G>T	ENSP00000407517.2:n.275+3465G>T
ENST00000642493.1:c.*198G>T	ENSP00000493524.1:n.*198G>T
ENST00000642498.1:c.491G>T	ENSP00000493631.1:p.Arg164Leu
ENST00000642538.1:c.351+443G>T	ENSP00000493927.1:n.351+443G>T
ENST00000643188.1:c.491G>T	ENSP00000493903.1:p.Arg164Leu
ENST00000643443.1:c.*198G>T	ENSP00000495572.1:n.*198G>T
ENST00000643502.1:c.148G>T
ENST00000643908.1:n.854G>T
ENST00000644538.1:n.768G>T
ENST00000644793.1:c.491G>T	ENSP00000495750.1:p.Arg164Leu
ENST00000645408.1:c.91G>T
ENST00000645723.1:n.1730G>T
ENST00000646405.1:c.351+443G>T	ENSP00000493744.1:n.351+443G>T
ENST00000646497.1:n.438G>T
ENST00000646502.1:n.973G>T
ENST00000646512.1:n.704G>T
ENST00000646735.1:c.275+3465G>T	ENSP00000493763.1:n.275+3465G>T
ENST00000646766.1:c.*121G>T	ENSP00000494333.1:n.*121G>T
XM_005260406.3:c.491G>T	XP_005260463.1:p.Arg164Leu
XM_011528796.1:c.491G>T	XP_011527098.1:p.Arg164Leu