Canonical Allele Identifier: CA2575699318
Gene: UBR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958165A>G , CM000677.2:g.42958165A>G GRCh38
NC_000015.9:g.43250363A>G , CM000677.1:g.43250363A>G GRCh37
NC_000015.8:g.41037655A>G NCBI36
NG_012182.1:g.152924T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4758-75T>C MANE Select ENSP00000290650.4:n.4758-75T>C
ENST00000290650.8:c.4758-75T>C ENSP00000290650.4:n.4758-75T>C
NM_174916.2:c.4758-75T>C NP_777576.1:n.4758-75T>C
NM_174916.3:c.4758-75T>C MANE Select NP_777576.1:n.4758-75T>C
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