Canonical Allele Identifier: CA390811074
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93684998C>A (hg19) chr14:g.93218652C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218652C>A , CM000676.2:g.93218652C>A GRCh38
NC_000014.8:g.93684998C>A , CM000676.1:g.93684998C>A GRCh37
NC_000014.7:g.92754751C>A NCBI36
NG_051089.1:g.16597C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000013070.11:c.727C>A MANE Select ENSP00000013070.6:p.Gln243Lys
ENST00000013070.10:c.727C>A ENSP00000013070.6:p.Gln243Lys
ENST00000416753.5:c.499C>A ENSP00000391706.2:p.Gln167Lys
ENST00000553674.1:c.*428C>A ENSP00000450470.1:n.*428C>A
ENST00000553857.5:c.378+3371C>A
ENST00000556871.5:c.436C>A ENSP00000451022.1:p.Gln146Lys
NM_175748.3:c.727C>A NP_786924.2:p.Gln243Lys
NR_038150.1:n.829C>A
NM_175748.4:c.727C>A MANE Select NP_786924.2:p.Gln243Lys
NR_038150.2:n.629C>A
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