Canonical Allele Identifier: CA2577378515
Gene: GSS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34935521G>A , CM000682.2:g.34935521G>A GRCh38
NC_000020.10:g.33523324G>A , CM000682.1:g.33523324G>A GRCh37
NC_000020.9:g.32986985G>A NCBI36
NG_008848.1:g.25278C>T
NG_008848.2:g.25507C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642493.1:c.*474+1242C>T ENSP00000493524.1:n.*474+1242C>T
ENST00000642498.1:c.834+55C>T ENSP00000493631.1:n.834+55C>T
ENST00000642538.1:c.*178+55C>T ENSP00000493927.1:n.*178+55C>T
ENST00000643188.1:c.834+55C>T ENSP00000493903.1:n.834+55C>T
ENST00000643443.1:c.*541+55C>T ENSP00000495572.1:n.*541+55C>T
ENST00000643502.1:c.491+55C>T
ENST00000643908.1:n.1052+1422C>T
ENST00000644538.1:n.1111+55C>T
ENST00000644793.1:c.834+55C>T ENSP00000495750.1:n.834+55C>T
ENST00000645328.1:c.212+55C>T
ENST00000645408.1:c.367+1242C>T
ENST00000645723.1:n.2073+55C>T
ENST00000646405.1:c.*252+1242C>T ENSP00000493744.1:n.*252+1242C>T
ENST00000646497.1:n.779+55C>T
ENST00000646502.1:n.1316+55C>T
ENST00000646512.1:n.980+1242C>T
ENST00000646735.1:c.501+55C>T ENSP00000493763.1:n.501+55C>T
ENST00000651619.1:c.834+55C>T MANE Select ENSP00000498303.1:n.834+55C>T
ENST00000216951.6:c.834+55C>T ENSP00000216951.2:n.834+55C>T
ENST00000451957.2:c.501+55C>T ENSP00000407517.2:n.501+55C>T
NM_000178.2:c.834+55C>T NP_000169.1:n.834+55C>T
XM_005260406.3:c.834+55C>T XP_005260463.1:n.834+55C>T
XM_011528796.1:c.834+55C>T XP_011527098.1:n.834+55C>T
NM_000178.4:c.834+55C>T MANE Select NP_000169.1:n.834+55C>T
NM_001322494.1:c.834+55C>T NP_001309423.1:n.834+55C>T
NM_001322495.1:c.834+55C>T NP_001309424.1:n.834+55C>T