Canonical Allele Identifier: CA392058095
Gene: UBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958074T>G , CM000677.2:g.42958074T>G GRCh38
NC_000015.9:g.43250272T>G , CM000677.1:g.43250272T>G GRCh37
NC_000015.8:g.41037564T>G NCBI36
NG_012182.1:g.153015A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4774A>C MANE Select ENSP00000290650.4:p.Asn1592His
ENST00000290650.8:c.4774A>C ENSP00000290650.4:p.Asn1592His
NM_174916.2:c.4774A>C NP_777576.1:p.Asn1592His
NM_174916.3:c.4774A>C MANE Select NP_777576.1:p.Asn1592His