Canonical Allele Identifier: CA269934320
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs932528381
gnomAD v4: 15-42958209-A-G
MyVariant Identifiers: chr15:g.43250407A>G (hg19) chr15:g.42958209A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958209A>G , CM000677.2:g.42958209A>G GRCh38
NC_000015.9:g.43250407A>G , CM000677.1:g.43250407A>G GRCh37
NC_000015.8:g.41037699A>G NCBI36
NG_012182.1:g.152880T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4758-119T>C MANE Select ENSP00000290650.4:n.4758-119T>C
ENST00000290650.8:c.4758-119T>C ENSP00000290650.4:n.4758-119T>C
NM_174916.2:c.4758-119T>C NP_777576.1:n.4758-119T>C
NM_174916.3:c.4758-119T>C MANE Select NP_777576.1:n.4758-119T>C
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