Canonical Allele Identifier: CA658684238
Gene: GSS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34955722C>T , CM000682.2:g.34955722C>T GRCh38
NC_000020.10:g.33543525C>T , CM000682.1:g.33543525C>T GRCh37
NC_000020.9:g.33007186C>T NCBI36
NG_008848.1:g.5077G>A
NG_016984.2:g.4822C>T
NG_008848.2:g.5306G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642493.1:c.-9+5G>A ENSP00000493524.1:n.-9+5G>A
ENST00000642498.1:c.-9+5G>A ENSP00000493631.1:n.-9+5G>A
ENST00000642538.1:c.-9+5G>A ENSP00000493927.1:n.-9+5G>A
ENST00000643188.1:c.-9+148G>A ENSP00000493903.1:n.-9+148G>A
ENST00000643203.1:n.82+5G>A
ENST00000643443.1:c.-9+5G>A ENSP00000495572.1:n.-9+5G>A
ENST00000643628.1:n.57+5G>A
ENST00000643690.1:n.57+5G>A
ENST00000643908.1:n.52+5G>A
ENST00000644197.1:n.64+5G>A
ENST00000644608.1:c.-288+5G>A ENSP00000493500.1:n.-288+5G>A
ENST00000646405.1:c.-9+5G>A ENSP00000493744.1:n.-9+5G>A
ENST00000646735.1:c.-9+5G>A ENSP00000493763.1:n.-9+5G>A
ENST00000651619.1:c.-9+5G>A MANE Select ENSP00000498303.1:n.-9+5G>A
ENST00000216951.6:c.-9+5G>A ENSP00000216951.2:n.-9+5G>A
NM_000178.2:c.-9+5G>A NP_000169.1:n.-9+5G>A
XM_011528796.1:c.-9+148G>A XP_011527098.1:n.-9+148G>A
NM_000178.4:c.-9+5G>A MANE Select NP_000169.1:n.-9+5G>A
NM_001322494.1:c.-9+148G>A NP_001309423.1:n.-9+148G>A
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