Canonical Allele Identifier: CA487594041
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93684883A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218537A>C , CM000676.2:g.93218537A>C GRCh38
NC_000014.8:g.93684883A>C , CM000676.1:g.93684883A>C GRCh37
NC_000014.7:g.92754636A>C NCBI36
NG_051089.1:g.16482A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.612A>C MANE Select ENSP00000013070.6:p.Ile204=
ENST00000013070.10:c.612A>C ENSP00000013070.6:p.Ile204=
ENST00000416753.5:c.384A>C ENSP00000391706.2:p.Ile128=
ENST00000553674.1:c.*313A>C ENSP00000450470.1:n.*313A>C
ENST00000553857.5:c.378+3256A>C
ENST00000554232.5:c.516A>C ENSP00000450645.1:p.Ile172=
ENST00000556871.5:c.321A>C ENSP00000451022.1:p.Ile107=
ENST00000557048.1:n.521A>C
NM_175748.3:c.612A>C NP_786924.2:p.Ile204=
NR_038150.1:n.714A>C
NM_175748.4:c.612A>C MANE Select NP_786924.2:p.Ile204=
NR_038150.2:n.514A>C