Canonical Allele Identifier: CA269934103

Gene: UBR1

Linked Data

• dbSNP Id: rs752400969
• gnomAD v2: 15-43250118-A-G
• gnomAD v3: 15-42957920-A-G
• gnomAD v4: 15-42957920-A-G
• MyVariant Identifiers: chr15:g.43250118A>G (hg19) ; chr15:g.42957920A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42957920A>G , CM000677.2:g.42957920A>G	GRCh38
NC_000015.9:g.43250118A>G , CM000677.1:g.43250118A>G	GRCh37
NC_000015.8:g.41037410A>G	NCBI36
NG_012182.1:g.153169T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290650.9:c.4835+93T>C MANE Select	ENSP00000290650.4:n.4835+93T>C
ENST00000290650.8:c.4835+93T>C	ENSP00000290650.4:n.4835+93T>C
NM_174916.2:c.4835+93T>C	NP_777576.1:n.4835+93T>C
NM_174916.3:c.4835+93T>C MANE Select	NP_777576.1:n.4835+93T>C