Canonical Allele Identifier: CA713162293
Gene: SQOR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45642671C>G , CM000677.2:g.45642671C>G GRCh38
NC_000015.9:g.45934869C>G , CM000677.1:g.45934869C>G GRCh37
NC_000015.8:g.43722161C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260324.12:c.-18+7563C>G MANE Select ENSP00000260324.7:n.-18+7563C>G
ENST00000260324.11:c.-18+7563C>G ENSP00000260324.7:n.-18+7563C>G
ENST00000561735.5:c.-18+7777C>G ENSP00000456075.1:n.-18+7777C>G
ENST00000563296.1:c.-18+10652C>G ENSP00000456979.1:n.-18+10652C>G
ENST00000564080.1:c.-17-16236C>G ENSP00000455047.1:n.-17-16236C>G
ENST00000565227.1:c.-18+10656C>G ENSP00000457592.1:n.-18+10656C>G
ENST00000568606.5:c.-18+10656C>G ENSP00000456019.1:n.-18+10656C>G
NM_001271213.1:c.-18+10652C>G NP_001258142.1:n.-18+10652C>G
NM_021199.3:c.-18+7563C>G NP_067022.1:n.-18+7563C>G
NM_021199.4:c.-18+7563C>G MANE Select NP_067022.1:n.-18+7563C>G
NM_001271213.2:c.-18+10652C>G NP_001258142.1:n.-18+10652C>G