Canonical Allele Identifier: CA487594124
Gene: UBR7 HGNC NCBI

Linked Data

gnomAD v4: 14-93218675-G-A
MyVariant Identifiers: chr14:g.93685021G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218675G>A , CM000676.2:g.93218675G>A GRCh38
NC_000014.8:g.93685021G>A , CM000676.1:g.93685021G>A GRCh37
NC_000014.7:g.92754774G>A NCBI36
NG_051089.1:g.16620G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.750G>A MANE Select ENSP00000013070.6:p.Glu250=
ENST00000013070.10:c.750G>A ENSP00000013070.6:p.Glu250=
ENST00000416753.5:c.522G>A ENSP00000391706.2:p.Glu174=
ENST00000553674.1:c.*451G>A ENSP00000450470.1:n.*451G>A
ENST00000553857.5:c.378+3394G>A
NM_175748.3:c.750G>A NP_786924.2:p.Glu250=
NR_038150.1:n.852G>A
NM_175748.4:c.750G>A MANE Select NP_786924.2:p.Glu250=
NR_038150.2:n.652G>A
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