Canonical Allele Identifier: CA14143848

Gene: SQOR

Linked Data

• dbSNP Id: rs607541
• gnomAD v2: 15-45934869-C-A
• gnomAD v3: 15-45642671-C-A
• gnomAD v4: 15-45642671-C-A
• MyVariant Identifiers: chr15:g.45934869C>A (hg19) ; chr15:g.45642671C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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