Canonical Allele Identifier: CA7319894

Gene: UBR7

Linked Data

• dbSNP Id: rs761422956
• ExAC: 14:93684892 G / A
• gnomAD v2: 14-93684892-G-A
• gnomAD v4: 14-93218546-G-A
• MyVariant Identifiers: chr14:g.93684892G>A (hg19) ; chr14:g.93218546G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218546G>A , CM000676.2:g.93218546G>A	GRCh38
NC_000014.8:g.93684892G>A , CM000676.1:g.93684892G>A	GRCh37
NC_000014.7:g.92754645G>A	NCBI36
NG_051089.1:g.16491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.621G>A MANE Select	ENSP00000013070.6:p.Glu207=
ENST00000013070.10:c.621G>A	ENSP00000013070.6:p.Glu207=
ENST00000416753.5:c.393G>A	ENSP00000391706.2:p.Glu131=
ENST00000553674.1:c.*322G>A	ENSP00000450470.1:n.*322G>A
ENST00000553857.5:c.378+3265G>A
ENST00000554232.5:c.525G>A	ENSP00000450645.1:p.Glu175=
ENST00000556871.5:c.330G>A	ENSP00000451022.1:p.Glu110=
ENST00000557048.1:n.530G>A
NM_175748.3:c.621G>A	NP_786924.2:p.Glu207=
NR_038150.1:n.723G>A
NM_175748.4:c.621G>A MANE Select	NP_786924.2:p.Glu207=
NR_038150.2:n.523G>A