Canonical Allele Identifier: CA390811129
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93685010G>C (hg19) chr14:g.93218664G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218664G>C , CM000676.2:g.93218664G>C GRCh38
NC_000014.8:g.93685010G>C , CM000676.1:g.93685010G>C GRCh37
NC_000014.7:g.92754763G>C NCBI36
NG_051089.1:g.16609G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000013070.11:c.739G>C MANE Select ENSP00000013070.6:p.Asp247His
ENST00000013070.10:c.739G>C ENSP00000013070.6:p.Asp247His
ENST00000416753.5:c.511G>C ENSP00000391706.2:p.Asp171His
ENST00000553674.1:c.*440G>C ENSP00000450470.1:n.*440G>C
ENST00000553857.5:c.378+3383G>C
ENST00000556871.5:c.448G>C ENSP00000451022.1:p.Asp150His
NM_175748.3:c.739G>C NP_786924.2:p.Asp247His
NR_038150.1:n.841G>C
NM_175748.4:c.739G>C MANE Select NP_786924.2:p.Asp247His
NR_038150.2:n.641G>C
Search 100 bp 5'
Search 100 bp 3'