Canonical Allele Identifier: CA2803929193
Gene: UBR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958250G>A , CM000677.2:g.42958250G>A GRCh38
NC_000015.9:g.43250448G>A , CM000677.1:g.43250448G>A GRCh37
NC_000015.8:g.41037740G>A NCBI36
NG_012182.1:g.152839C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4758-160C>T MANE Select ENSP00000290650.4:n.4758-160C>T
ENST00000290650.8:c.4758-160C>T ENSP00000290650.4:n.4758-160C>T
NM_174916.2:c.4758-160C>T NP_777576.1:n.4758-160C>T
NM_174916.3:c.4758-160C>T MANE Select NP_777576.1:n.4758-160C>T
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