Canonical Allele Identifier: CA487594040
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93684880A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218534A>G , CM000676.2:g.93218534A>G GRCh38
NC_000014.8:g.93684880A>G , CM000676.1:g.93684880A>G GRCh37
NC_000014.7:g.92754633A>G NCBI36
NG_051089.1:g.16479A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.609A>G MANE Select ENSP00000013070.6:p.Lys203=
ENST00000013070.10:c.609A>G ENSP00000013070.6:p.Lys203=
ENST00000416753.5:c.381A>G ENSP00000391706.2:p.Lys127=
ENST00000553674.1:c.*310A>G ENSP00000450470.1:n.*310A>G
ENST00000553857.5:c.378+3253A>G
ENST00000554232.5:c.513A>G ENSP00000450645.1:p.Lys171=
ENST00000556871.5:c.318A>G ENSP00000451022.1:p.Lys106=
ENST00000557048.1:n.518A>G
NM_175748.3:c.609A>G NP_786924.2:p.Lys203=
NR_038150.1:n.711A>G
NM_175748.4:c.609A>G MANE Select NP_786924.2:p.Lys203=
NR_038150.2:n.511A>G