Canonical Allele Identifier: CA390811080

Gene: UBR7

Linked Data

• dbSNP Id: rs1894641002
• gnomAD v4: 14-93218653-A-G
• MyVariant Identifiers: chr14:g.93684999A>G (hg19) ; chr14:g.93218653A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218653A>G , CM000676.2:g.93218653A>G	GRCh38
NC_000014.8:g.93684999A>G , CM000676.1:g.93684999A>G	GRCh37
NC_000014.7:g.92754752A>G	NCBI36
NG_051089.1:g.16598A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000013070.11:c.728A>G MANE Select	ENSP00000013070.6:p.Gln243Arg
ENST00000013070.10:c.728A>G	ENSP00000013070.6:p.Gln243Arg
ENST00000416753.5:c.500A>G	ENSP00000391706.2:p.Gln167Arg
ENST00000553674.1:c.*429A>G	ENSP00000450470.1:n.*429A>G
ENST00000553857.5:c.378+3372A>G
ENST00000556871.5:c.437A>G	ENSP00000451022.1:p.Gln146Arg
NM_175748.3:c.728A>G	NP_786924.2:p.Gln243Arg
NR_038150.1:n.830A>G
NM_175748.4:c.728A>G MANE Select	NP_786924.2:p.Gln243Arg
NR_038150.2:n.630A>G