Canonical Allele Identifier: CA615797792

Gene: UBR7

Linked Data

• dbSNP Id: rs1278864863
• gnomAD v2: 14-93684693-G-A
• gnomAD v3: 14-93218347-G-A
• gnomAD v4: 14-93218347-G-A
• MyVariant Identifiers: chr14:g.93684693G>A (hg19) ; chr14:g.93218347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218347G>A , CM000676.2:g.93218347G>A	GRCh38
NC_000014.8:g.93684693G>A , CM000676.1:g.93684693G>A	GRCh37
NC_000014.7:g.92754446G>A	NCBI36
NG_051089.1:g.16292G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.602-180G>A MANE Select	ENSP00000013070.6:n.602-180G>A
ENST00000013070.10:c.602-180G>A	ENSP00000013070.6:n.602-180G>A
ENST00000416753.5:c.374-180G>A	ENSP00000391706.2:n.374-180G>A
ENST00000553674.1:c.*303-180G>A	ENSP00000450470.1:n.*303-180G>A
ENST00000553857.5:c.378+3066G>A
ENST00000554232.5:c.506-180G>A	ENSP00000450645.1:n.506-180G>A
ENST00000556871.5:c.311-180G>A	ENSP00000451022.1:n.311-180G>A
ENST00000557048.1:n.511-180G>A
NM_175748.3:c.602-180G>A	NP_786924.2:n.602-180G>A
NR_038150.1:n.704-180G>A
NM_175748.4:c.602-180G>A MANE Select	NP_786924.2:n.602-180G>A
NR_038150.2:n.504-180G>A