Canonical Allele Identifier: CA392079974
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43067919A>C , CM000677.2:g.43067919A>C GRCh38
NC_000015.9:g.43360117A>C , CM000677.1:g.43360117A>C GRCh37
NC_000015.8:g.41147409A>C NCBI36
NG_012182.1:g.43170T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.777T>G MANE Select ENSP00000290650.4:p.His259Gln
ENST00000290650.8:c.777T>G ENSP00000290650.4:p.His259Gln
ENST00000546274.6:c.777T>G ENSP00000477932.1:p.His259Gln
ENST00000563239.1:c.*202+2980T>G ENSP00000456502.1:n.*202+2980T>G
NM_174916.2:c.777T>G NP_777576.1:p.His259Gln
NM_174916.3:c.777T>G MANE Select NP_777576.1:p.His259Gln