Canonical Allele Identifier: CA390810909

Gene: UBR7

Linked Data

• gnomAD v4: 14-93218608-A-G
• MyVariant Identifiers: chr14:g.93684954A>G (hg19) ; chr14:g.93218608A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218608A>G , CM000676.2:g.93218608A>G	GRCh38
NC_000014.8:g.93684954A>G , CM000676.1:g.93684954A>G	GRCh37
NC_000014.7:g.92754707A>G	NCBI36
NG_051089.1:g.16553A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.683A>G MANE Select	ENSP00000013070.6:p.Asn228Ser
ENST00000013070.10:c.683A>G	ENSP00000013070.6:p.Asn228Ser
ENST00000416753.5:c.455A>G	ENSP00000391706.2:p.Asn152Ser
ENST00000553674.1:c.*384A>G	ENSP00000450470.1:n.*384A>G
ENST00000553857.5:c.378+3327A>G
ENST00000556871.5:c.392A>G	ENSP00000451022.1:p.Asn131Ser
NM_175748.3:c.683A>G	NP_786924.2:p.Asn228Ser
NR_038150.1:n.785A>G
NM_175748.4:c.683A>G MANE Select	NP_786924.2:p.Asn228Ser
NR_038150.2:n.585A>G