Canonical Allele Identifier: CA390811098
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93685004A>C (hg19) chr14:g.93218658A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218658A>C , CM000676.2:g.93218658A>C GRCh38
NC_000014.8:g.93685004A>C , CM000676.1:g.93685004A>C GRCh37
NC_000014.7:g.92754757A>C NCBI36
NG_051089.1:g.16603A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000013070.11:c.733A>C MANE Select ENSP00000013070.6:p.Lys245Gln
ENST00000013070.10:c.733A>C ENSP00000013070.6:p.Lys245Gln
ENST00000416753.5:c.505A>C ENSP00000391706.2:p.Lys169Gln
ENST00000553674.1:c.*434A>C ENSP00000450470.1:n.*434A>C
ENST00000553857.5:c.378+3377A>C
ENST00000556871.5:c.442A>C ENSP00000451022.1:p.Lys148Gln
NM_175748.3:c.733A>C NP_786924.2:p.Lys245Gln
NR_038150.1:n.835A>C
NM_175748.4:c.733A>C MANE Select NP_786924.2:p.Lys245Gln
NR_038150.2:n.635A>C
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