Canonical Allele Identifier: CA390810680

Gene: UBR7

Linked Data

• dbSNP Id: rs1894637664
• gnomAD v4: 14-93218539-C-T
• MyVariant Identifiers: chr14:g.93684885C>T (hg19) ; chr14:g.93218539C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218539C>T , CM000676.2:g.93218539C>T	GRCh38
NC_000014.8:g.93684885C>T , CM000676.1:g.93684885C>T	GRCh37
NC_000014.7:g.92754638C>T	NCBI36
NG_051089.1:g.16484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.614C>T MANE Select	ENSP00000013070.6:p.Ser205Phe
ENST00000013070.10:c.614C>T	ENSP00000013070.6:p.Ser205Phe
ENST00000416753.5:c.386C>T	ENSP00000391706.2:p.Ser129Phe
ENST00000553674.1:c.*315C>T	ENSP00000450470.1:n.*315C>T
ENST00000553857.5:c.378+3258C>T
ENST00000554232.5:c.518C>T	ENSP00000450645.1:p.Ser173Phe
ENST00000556871.5:c.323C>T	ENSP00000451022.1:p.Ser108Phe
ENST00000557048.1:n.523C>T
NM_175748.3:c.614C>T	NP_786924.2:p.Ser205Phe
NR_038150.1:n.716C>T
NM_175748.4:c.614C>T MANE Select	NP_786924.2:p.Ser205Phe
NR_038150.2:n.516C>T