Canonical Allele Identifier: CA2174178726
Gene: SQOR HGNC NCBI

Linked Data

dbSNP Id: rs607541
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Genomic Alleles

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

Transcript Alleles

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