Canonical Allele Identifier: CA390811116
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93685008A>C (hg19) chr14:g.93218662A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218662A>C , CM000676.2:g.93218662A>C GRCh38
NC_000014.8:g.93685008A>C , CM000676.1:g.93685008A>C GRCh37
NC_000014.7:g.92754761A>C NCBI36
NG_051089.1:g.16607A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000013070.11:c.737A>C MANE Select ENSP00000013070.6:p.Asp246Ala
ENST00000013070.10:c.737A>C ENSP00000013070.6:p.Asp246Ala
ENST00000416753.5:c.509A>C ENSP00000391706.2:p.Asp170Ala
ENST00000553674.1:c.*438A>C ENSP00000450470.1:n.*438A>C
ENST00000553857.5:c.378+3381A>C
ENST00000556871.5:c.446A>C ENSP00000451022.1:p.Asp149Ala
NM_175748.3:c.737A>C NP_786924.2:p.Asp246Ala
NR_038150.1:n.839A>C
NM_175748.4:c.737A>C MANE Select NP_786924.2:p.Asp246Ala
NR_038150.2:n.639A>C
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