Canonical Allele Identifier: CA2628084744
Gene: UBR1 HGNC NCBI

Linked Data

gnomAD v4: 15-43048319-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048319C>G , CM000677.2:g.43048319C>G GRCh38
NC_000015.9:g.43340517C>G , CM000677.1:g.43340517C>G GRCh37
NC_000015.8:g.41127809C>G NCBI36
NG_012182.1:g.62770G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.1539+73G>C MANE Select ENSP00000290650.4:n.1539+73G>C
ENST00000290650.8:c.1539+73G>C ENSP00000290650.4:n.1539+73G>C
ENST00000546274.6:c.1539+73G>C ENSP00000477932.1:n.1539+73G>C
ENST00000563239.1:c.*203-1030G>C ENSP00000456502.1:n.*203-1030G>C
ENST00000569971.5:c.410+73G>C ENSP00000455759.1:n.410+73G>C
NM_174916.2:c.1539+73G>C NP_777576.1:n.1539+73G>C
NM_174916.3:c.1539+73G>C MANE Select NP_777576.1:n.1539+73G>C
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