Canonical Allele Identifier: CA487594116
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93685009T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218663T>C , CM000676.2:g.93218663T>C GRCh38
NC_000014.8:g.93685009T>C , CM000676.1:g.93685009T>C GRCh37
NC_000014.7:g.92754762T>C NCBI36
NG_051089.1:g.16608T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000013070.11:c.738T>C MANE Select ENSP00000013070.6:p.Asp246=
ENST00000013070.10:c.738T>C ENSP00000013070.6:p.Asp246=
ENST00000416753.5:c.510T>C ENSP00000391706.2:p.Asp170=
ENST00000553674.1:c.*439T>C ENSP00000450470.1:n.*439T>C
ENST00000553857.5:c.378+3382T>C
ENST00000556871.5:c.447T>C ENSP00000451022.1:p.Asp149=
NM_175748.3:c.738T>C NP_786924.2:p.Asp246=
NR_038150.1:n.840T>C
NM_175748.4:c.738T>C MANE Select NP_786924.2:p.Asp246=
NR_038150.2:n.640T>C
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