Canonical Allele Identifier: CA743904594

Gene: GSS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34955740C>T , CM000682.2:g.34955740C>T	GRCh38
NC_000020.10:g.33543543C>T , CM000682.1:g.33543543C>T	GRCh37
NC_000020.9:g.33007204C>T	NCBI36
NG_008848.1:g.5059G>A
NG_016984.2:g.4840C>T
NG_008848.2:g.5288G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000178.4:c.-22G>A MANE Select	NP_000169.1:n.-22G>A
ENST00000651619.1:c.-22G>A MANE Select	ENSP00000498303.1:n.-22G>A
NM_000178.2:c.-22G>A	NP_000169.1:n.-22G>A
NM_001322494.1:c.-9+130G>A	NP_001309423.1:n.-9+130G>A
ENST00000216951.6:c.-22G>A	ENSP00000216951.2:n.-22G>A
ENST00000642493.1:c.-22G>A	ENSP00000493524.1:n.-22G>A
ENST00000642498.1:c.-22G>A	ENSP00000493631.1:n.-22G>A
ENST00000642538.1:c.-22G>A	ENSP00000493927.1:n.-22G>A
ENST00000643188.1:c.-9+130G>A	ENSP00000493903.1:n.-9+130G>A
ENST00000643203.1:n.69G>A
ENST00000643443.1:c.-22G>A	ENSP00000495572.1:n.-22G>A
ENST00000643628.1:n.44G>A
ENST00000643690.1:n.44G>A
ENST00000643908.1:n.39G>A
ENST00000644197.1:n.51G>A
ENST00000644608.1:c.-301G>A	ENSP00000493500.1:n.-301G>A
ENST00000646405.1:c.-22G>A	ENSP00000493744.1:n.-22G>A
ENST00000646735.1:c.-22G>A	ENSP00000493763.1:n.-22G>A
XM_011528796.1:c.-9+130G>A	XP_011527098.1:n.-9+130G>A