Canonical Allele Identifier: CA2628078330
Gene: UBR1 HGNC NCBI

Linked Data

gnomAD v4: 15-42957953-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42957953C>T , CM000677.2:g.42957953C>T GRCh38
NC_000015.9:g.43250151C>T , CM000677.1:g.43250151C>T GRCh37
NC_000015.8:g.41037443C>T NCBI36
NG_012182.1:g.153136G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4835+60G>A MANE Select ENSP00000290650.4:n.4835+60G>A
ENST00000290650.8:c.4835+60G>A ENSP00000290650.4:n.4835+60G>A
NM_174916.2:c.4835+60G>A NP_777576.1:n.4835+60G>A
NM_174916.3:c.4835+60G>A MANE Select NP_777576.1:n.4835+60G>A
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