Canonical Allele Identifier: CA390811146
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93685014T>A (hg19) chr14:g.93218668T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218668T>A , CM000676.2:g.93218668T>A GRCh38
NC_000014.8:g.93685014T>A , CM000676.1:g.93685014T>A GRCh37
NC_000014.7:g.92754767T>A NCBI36
NG_051089.1:g.16613T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.743T>A MANE Select ENSP00000013070.6:p.Val248Asp
ENST00000013070.10:c.743T>A ENSP00000013070.6:p.Val248Asp
ENST00000416753.5:c.515T>A ENSP00000391706.2:p.Val172Asp
ENST00000553674.1:c.*444T>A ENSP00000450470.1:n.*444T>A
ENST00000553857.5:c.378+3387T>A
ENST00000556871.5:c.452T>A ENSP00000451022.1:p.Val151Asp
NM_175748.3:c.743T>A NP_786924.2:p.Val248Asp
NR_038150.1:n.845T>A
NM_175748.4:c.743T>A MANE Select NP_786924.2:p.Val248Asp
NR_038150.2:n.645T>A
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