Canonical Allele Identifier: CA392057954
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs2031952352

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958049T>A , CM000677.2:g.42958049T>A GRCh38
NC_000015.9:g.43250247T>A , CM000677.1:g.43250247T>A GRCh37
NC_000015.8:g.41037539T>A NCBI36
NG_012182.1:g.153040A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4799A>T MANE Select ENSP00000290650.4:p.Asp1600Val
ENST00000290650.8:c.4799A>T ENSP00000290650.4:p.Asp1600Val
NM_174916.2:c.4799A>T NP_777576.1:p.Asp1600Val
NM_174916.3:c.4799A>T MANE Select NP_777576.1:p.Asp1600Val