Canonical Allele Identifier: CA390810947
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93684963A>C (hg19) chr14:g.93218617A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218617A>C , CM000676.2:g.93218617A>C GRCh38
NC_000014.8:g.93684963A>C , CM000676.1:g.93684963A>C GRCh37
NC_000014.7:g.92754716A>C NCBI36
NG_051089.1:g.16562A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.692A>C MANE Select ENSP00000013070.6:p.His231Pro
ENST00000013070.10:c.692A>C ENSP00000013070.6:p.His231Pro
ENST00000416753.5:c.464A>C ENSP00000391706.2:p.His155Pro
ENST00000553674.1:c.*393A>C ENSP00000450470.1:n.*393A>C
ENST00000553857.5:c.378+3336A>C
ENST00000556871.5:c.401A>C ENSP00000451022.1:p.His134Pro
NM_175748.3:c.692A>C NP_786924.2:p.His231Pro
NR_038150.1:n.794A>C
NM_175748.4:c.692A>C MANE Select NP_786924.2:p.His231Pro
NR_038150.2:n.594A>C
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