Canonical Allele Identifier: CA392058073
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958070C>T , CM000677.2:g.42958070C>T GRCh38
NC_000015.9:g.43250268C>T , CM000677.1:g.43250268C>T GRCh37
NC_000015.8:g.41037560C>T NCBI36
NG_012182.1:g.153019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4778G>A MANE Select ENSP00000290650.4:p.Ser1593Asn
ENST00000290650.8:c.4778G>A ENSP00000290650.4:p.Ser1593Asn
NM_174916.2:c.4778G>A NP_777576.1:p.Ser1593Asn
NM_174916.3:c.4778G>A MANE Select NP_777576.1:p.Ser1593Asn