Canonical Allele Identifier: CA7319889

Gene: UBR7

Linked Data

• dbSNP Id: rs199600724
• ExAC: 14:93684836 T / C
• gnomAD v2: 14-93684836-T-C
• gnomAD v3: 14-93218490-T-C
• gnomAD v4: 14-93218490-T-C
• MyVariant Identifiers: chr14:g.93684836T>C (hg19) ; chr14:g.93218490T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218490T>C , CM000676.2:g.93218490T>C	GRCh38
NC_000014.8:g.93684836T>C , CM000676.1:g.93684836T>C	GRCh37
NC_000014.7:g.92754589T>C	NCBI36
NG_051089.1:g.16435T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.602-37T>C MANE Select	ENSP00000013070.6:n.602-37T>C
ENST00000013070.10:c.602-37T>C	ENSP00000013070.6:n.602-37T>C
ENST00000416753.5:c.374-37T>C	ENSP00000391706.2:n.374-37T>C
ENST00000553674.1:c.*303-37T>C	ENSP00000450470.1:n.*303-37T>C
ENST00000553857.5:c.378+3209T>C
ENST00000554232.5:c.506-37T>C	ENSP00000450645.1:n.506-37T>C
ENST00000556871.5:c.311-37T>C	ENSP00000451022.1:n.311-37T>C
ENST00000557048.1:n.511-37T>C
NM_175748.3:c.602-37T>C	NP_786924.2:n.602-37T>C
NR_038150.1:n.704-37T>C
NM_175748.4:c.602-37T>C MANE Select	NP_786924.2:n.602-37T>C
NR_038150.2:n.504-37T>C