Canonical Allele Identifier: CA390810698
Gene: UBR7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218548A>T , CM000676.2:g.93218548A>T GRCh38
NC_000014.8:g.93684894A>T , CM000676.1:g.93684894A>T GRCh37
NC_000014.7:g.92754647A>T NCBI36
NG_051089.1:g.16493A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.623A>T MANE Select ENSP00000013070.6:p.Asp208Val
ENST00000013070.10:c.623A>T ENSP00000013070.6:p.Asp208Val
ENST00000416753.5:c.395A>T ENSP00000391706.2:p.Asp132Val
ENST00000553674.1:c.*324A>T ENSP00000450470.1:n.*324A>T
ENST00000553857.5:c.378+3267A>T
ENST00000554232.5:c.527A>T ENSP00000450645.1:p.Asp176Val
ENST00000556871.5:c.332A>T ENSP00000451022.1:p.Asp111Val
ENST00000557048.1:n.532A>T
NM_175748.3:c.623A>T NP_786924.2:p.Asp208Val
NR_038150.1:n.725A>T
NM_175748.4:c.623A>T MANE Select NP_786924.2:p.Asp208Val
NR_038150.2:n.525A>T