Canonical Allele Identifier: CA390811510
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93685070T>C (hg19) chr14:g.93218724T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218724T>C , CM000676.2:g.93218724T>C GRCh38
NC_000014.8:g.93685070T>C , CM000676.1:g.93685070T>C GRCh37
NC_000014.7:g.92754823T>C NCBI36
NG_051089.1:g.16669T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.799T>C MANE Select ENSP00000013070.6:p.Ser267Pro
ENST00000013070.10:c.799T>C ENSP00000013070.6:p.Ser267Pro
ENST00000416753.5:c.571T>C ENSP00000391706.2:p.Ser191Pro
ENST00000553674.1:c.*500T>C ENSP00000450470.1:n.*500T>C
ENST00000553857.5:c.378+3443T>C
ENST00000555329.1:c.44T>C
NM_175748.3:c.799T>C NP_786924.2:p.Ser267Pro
NR_038150.1:n.901T>C
NM_175748.4:c.799T>C MANE Select NP_786924.2:p.Ser267Pro
NR_038150.2:n.701T>C
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