Canonical Allele Identifier: CA2172970075
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs781148644

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958100A>G , CM000677.2:g.42958100A>G GRCh38
NC_000015.9:g.43250298A>G , CM000677.1:g.43250298A>G GRCh37
NC_000015.8:g.41037590A>G NCBI36
NG_012182.1:g.152989T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4758-10T>C MANE Select ENSP00000290650.4:n.4758-10T>C
ENST00000290650.8:c.4758-10T>C ENSP00000290650.4:n.4758-10T>C
NM_174916.2:c.4758-10T>C NP_777576.1:n.4758-10T>C
NM_174916.3:c.4758-10T>C MANE Select NP_777576.1:n.4758-10T>C