Canonical Allele Identifier: CA2172970112
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs2031953926
gnomAD v4: 15-42958151-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958151C>T , CM000677.2:g.42958151C>T GRCh38
NC_000015.9:g.43250349C>T , CM000677.1:g.43250349C>T GRCh37
NC_000015.8:g.41037641C>T NCBI36
NG_012182.1:g.152938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4758-61G>A MANE Select ENSP00000290650.4:n.4758-61G>A
ENST00000290650.8:c.4758-61G>A ENSP00000290650.4:n.4758-61G>A
NM_174916.2:c.4758-61G>A NP_777576.1:n.4758-61G>A
NM_174916.3:c.4758-61G>A MANE Select NP_777576.1:n.4758-61G>A
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