Canonical Allele Identifier: CA2172970114
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs2031953978
gnomAD v3: 15-42958154-A-C
gnomAD v4: 15-42958154-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958154A>C , CM000677.2:g.42958154A>C GRCh38
NC_000015.9:g.43250352A>C , CM000677.1:g.43250352A>C GRCh37
NC_000015.8:g.41037644A>C NCBI36
NG_012182.1:g.152935T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4758-64T>G MANE Select ENSP00000290650.4:n.4758-64T>G
ENST00000290650.8:c.4758-64T>G ENSP00000290650.4:n.4758-64T>G
NM_174916.2:c.4758-64T>G NP_777576.1:n.4758-64T>G
NM_174916.3:c.4758-64T>G MANE Select NP_777576.1:n.4758-64T>G
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