Canonical Allele Identifier: CA390810962
Gene: UBR7 HGNC NCBI

Linked Data

gnomAD v4: 14-93218622-G-A
MyVariant Identifiers: chr14:g.93684968G>A (hg19) chr14:g.93218622G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218622G>A , CM000676.2:g.93218622G>A GRCh38
NC_000014.8:g.93684968G>A , CM000676.1:g.93684968G>A GRCh37
NC_000014.7:g.92754721G>A NCBI36
NG_051089.1:g.16567G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.697G>A MANE Select ENSP00000013070.6:p.Asp233Asn
ENST00000013070.10:c.697G>A ENSP00000013070.6:p.Asp233Asn
ENST00000416753.5:c.469G>A ENSP00000391706.2:p.Asp157Asn
ENST00000553674.1:c.*398G>A ENSP00000450470.1:n.*398G>A
ENST00000553857.5:c.378+3341G>A
ENST00000556871.5:c.406G>A ENSP00000451022.1:p.Asp136Asn
NM_175748.3:c.697G>A NP_786924.2:p.Asp233Asn
NR_038150.1:n.799G>A
NM_175748.4:c.697G>A MANE Select NP_786924.2:p.Asp233Asn
NR_038150.2:n.599G>A
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