Canonical Allele Identifier: CA408705607

Gene: GSS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34946098C>A , CM000682.2:g.34946098C>A	GRCh38
NC_000020.10:g.33533901C>A , CM000682.1:g.33533901C>A	GRCh37
NC_000020.9:g.32997562C>A	NCBI36
NG_008848.1:g.14701G>T
NG_008848.2:g.14930G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.130-3092G>T	ENSP00000493524.1:n.130-3092G>T
ENST00000642498.1:c.130G>T	ENSP00000493631.1:p.Val44Leu
ENST00000642538.1:c.130G>T	ENSP00000493927.1:p.Val44Leu
ENST00000643188.1:c.130G>T	ENSP00000493903.1:p.Val44Leu
ENST00000643271.1:c.130G>T	ENSP00000496125.1:p.Val44Leu
ENST00000643443.1:c.130-47G>T	ENSP00000495572.1:n.130-47G>T
ENST00000643690.1:n.129-47G>T
ENST00000643908.1:n.190G>T
ENST00000644197.1:n.202G>T
ENST00000644538.1:n.104G>T
ENST00000644793.1:c.130G>T	ENSP00000495750.1:p.Val44Leu
ENST00000645102.1:c.130G>T	ENSP00000495829.1:p.Val44Leu
ENST00000645723.1:n.1066G>T
ENST00000646405.1:c.130G>T	ENSP00000493744.1:p.Val44Leu
ENST00000646497.1:n.77G>T
ENST00000646502.1:n.612G>T
ENST00000646512.1:n.40G>T
ENST00000646735.1:c.130G>T	ENSP00000493763.1:p.Val44Leu
ENST00000646766.1:c.130G>T	ENSP00000494333.1:p.Val44Leu
ENST00000651619.1:c.130G>T MANE Select	ENSP00000498303.1:p.Val44Leu
ENST00000216951.6:c.130G>T	ENSP00000216951.2:p.Val44Leu
ENST00000451957.2:c.130G>T	ENSP00000407517.2:p.Val44Leu
NM_000178.2:c.130G>T	NP_000169.1:p.Val44Leu
XM_005260406.3:c.130G>T	XP_005260463.1:p.Val44Leu
XM_011528796.1:c.130G>T	XP_011527098.1:p.Val44Leu
NM_000178.4:c.130G>T MANE Select	NP_000169.1:p.Val44Leu
NM_001322494.1:c.130G>T	NP_001309423.1:p.Val44Leu
NM_001322495.1:c.130G>T	NP_001309424.1:p.Val44Leu