Canonical Allele Identifier: CA390810787

Gene: UBR7

Linked Data

• dbSNP Id: rs1460499450
• gnomAD v2: 14-93684926-G-A
• gnomAD v3: 14-93218580-G-A
• gnomAD v4: 14-93218580-G-A
• MyVariant Identifiers: chr14:g.93684926G>A (hg19) ; chr14:g.93218580G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218580G>A , CM000676.2:g.93218580G>A	GRCh38
NC_000014.8:g.93684926G>A , CM000676.1:g.93684926G>A	GRCh37
NC_000014.7:g.92754679G>A	NCBI36
NG_051089.1:g.16525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.655G>A MANE Select	ENSP00000013070.6:p.Gly219Ser
ENST00000013070.10:c.655G>A	ENSP00000013070.6:p.Gly219Ser
ENST00000416753.5:c.427G>A	ENSP00000391706.2:p.Gly143Ser
ENST00000553674.1:c.*356G>A	ENSP00000450470.1:n.*356G>A
ENST00000553857.5:c.378+3299G>A
ENST00000556871.5:c.364G>A	ENSP00000451022.1:p.Gly122Ser
ENST00000557048.1:n.564G>A
NM_175748.3:c.655G>A	NP_786924.2:p.Gly219Ser
NR_038150.1:n.757G>A
NM_175748.4:c.655G>A MANE Select	NP_786924.2:p.Gly219Ser
NR_038150.2:n.557G>A