Canonical Allele Identifier: CA487594049
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93684895T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218549T>C , CM000676.2:g.93218549T>C GRCh38
NC_000014.8:g.93684895T>C , CM000676.1:g.93684895T>C GRCh37
NC_000014.7:g.92754648T>C NCBI36
NG_051089.1:g.16494T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.624T>C MANE Select ENSP00000013070.6:p.Asp208=
ENST00000013070.10:c.624T>C ENSP00000013070.6:p.Asp208=
ENST00000416753.5:c.396T>C ENSP00000391706.2:p.Asp132=
ENST00000553674.1:c.*325T>C ENSP00000450470.1:n.*325T>C
ENST00000553857.5:c.378+3268T>C
ENST00000554232.5:c.528T>C ENSP00000450645.1:p.Asp176=
ENST00000556871.5:c.333T>C ENSP00000451022.1:p.Asp111=
ENST00000557048.1:n.533T>C
NM_175748.3:c.624T>C NP_786924.2:p.Asp208=
NR_038150.1:n.726T>C
NM_175748.4:c.624T>C MANE Select NP_786924.2:p.Asp208=
NR_038150.2:n.526T>C