Canonical Allele Identifier: CA7319916

Gene: UBR7

Linked Data

• dbSNP Id: rs754198156
• ExAC: 14:93685008 A / G
• gnomAD v2: 14-93685008-A-G
• gnomAD v4: 14-93218662-A-G
• MyVariant Identifiers: chr14:g.93685008A>G (hg19) ; chr14:g.93218662A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218662A>G , CM000676.2:g.93218662A>G	GRCh38
NC_000014.8:g.93685008A>G , CM000676.1:g.93685008A>G	GRCh37
NC_000014.7:g.92754761A>G	NCBI36
NG_051089.1:g.16607A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000013070.11:c.737A>G MANE Select	ENSP00000013070.6:p.Asp246Gly
ENST00000013070.10:c.737A>G	ENSP00000013070.6:p.Asp246Gly
ENST00000416753.5:c.509A>G	ENSP00000391706.2:p.Asp170Gly
ENST00000553674.1:c.*438A>G	ENSP00000450470.1:n.*438A>G
ENST00000553857.5:c.378+3381A>G
ENST00000556871.5:c.446A>G	ENSP00000451022.1:p.Asp149Gly
NM_175748.3:c.737A>G	NP_786924.2:p.Asp246Gly
NR_038150.1:n.839A>G
NM_175748.4:c.737A>G MANE Select	NP_786924.2:p.Asp246Gly
NR_038150.2:n.639A>G