Canonical Allele Identifier: CA390811182
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93685023T>G (hg19) chr14:g.93218677T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218677T>G , CM000676.2:g.93218677T>G GRCh38
NC_000014.8:g.93685023T>G , CM000676.1:g.93685023T>G GRCh37
NC_000014.7:g.92754776T>G NCBI36
NG_051089.1:g.16622T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.752T>G MANE Select ENSP00000013070.6:p.Val251Gly
ENST00000013070.10:c.752T>G ENSP00000013070.6:p.Val251Gly
ENST00000416753.5:c.524T>G ENSP00000391706.2:p.Val175Gly
ENST00000553674.1:c.*453T>G ENSP00000450470.1:n.*453T>G
ENST00000553857.5:c.378+3396T>G
NM_175748.3:c.752T>G NP_786924.2:p.Val251Gly
NR_038150.1:n.854T>G
NM_175748.4:c.752T>G MANE Select NP_786924.2:p.Val251Gly
NR_038150.2:n.654T>G
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