Canonical Allele Identifier: CA390811136
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93685012T>A (hg19) chr14:g.93218666T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218666T>A , CM000676.2:g.93218666T>A GRCh38
NC_000014.8:g.93685012T>A , CM000676.1:g.93685012T>A GRCh37
NC_000014.7:g.92754765T>A NCBI36
NG_051089.1:g.16611T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.741T>A MANE Select ENSP00000013070.6:p.Asp247Glu
ENST00000013070.10:c.741T>A ENSP00000013070.6:p.Asp247Glu
ENST00000416753.5:c.513T>A ENSP00000391706.2:p.Asp171Glu
ENST00000553674.1:c.*442T>A ENSP00000450470.1:n.*442T>A
ENST00000553857.5:c.378+3385T>A
ENST00000556871.5:c.450T>A ENSP00000451022.1:p.Asp150Glu
NM_175748.3:c.741T>A NP_786924.2:p.Asp247Glu
NR_038150.1:n.843T>A
NM_175748.4:c.741T>A MANE Select NP_786924.2:p.Asp247Glu
NR_038150.2:n.643T>A
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