Canonical Allele Identifier: CA7319913

Gene: UBR7

Linked Data

• dbSNP Id: rs773529146
• ExAC: 14:93685002 G / T
• gnomAD v2: 14-93685002-G-T
• gnomAD v4: 14-93218656-G-T
• MyVariant Identifiers: chr14:g.93685002G>T (hg19) ; chr14:g.93218656G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218656G>T , CM000676.2:g.93218656G>T	GRCh38
NC_000014.8:g.93685002G>T , CM000676.1:g.93685002G>T	GRCh37
NC_000014.7:g.92754755G>T	NCBI36
NG_051089.1:g.16601G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000013070.11:c.731G>T MANE Select	ENSP00000013070.6:p.Gly244Val
ENST00000013070.10:c.731G>T	ENSP00000013070.6:p.Gly244Val
ENST00000416753.5:c.503G>T	ENSP00000391706.2:p.Gly168Val
ENST00000553674.1:c.*432G>T	ENSP00000450470.1:n.*432G>T
ENST00000553857.5:c.378+3375G>T
ENST00000556871.5:c.440G>T	ENSP00000451022.1:p.Gly147Val
NM_175748.3:c.731G>T	NP_786924.2:p.Gly244Val
NR_038150.1:n.833G>T
NM_175748.4:c.731G>T MANE Select	NP_786924.2:p.Gly244Val
NR_038150.2:n.633G>T