Canonical Allele Identifier: CA487594152
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93685066T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218720T>C , CM000676.2:g.93218720T>C GRCh38
NC_000014.8:g.93685066T>C , CM000676.1:g.93685066T>C GRCh37
NC_000014.7:g.92754819T>C NCBI36
NG_051089.1:g.16665T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.795T>C MANE Select ENSP00000013070.6:p.Ser265=
ENST00000013070.10:c.795T>C ENSP00000013070.6:p.Ser265=
ENST00000416753.5:c.567T>C ENSP00000391706.2:p.Ser189=
ENST00000553674.1:c.*496T>C ENSP00000450470.1:n.*496T>C
ENST00000553857.5:c.378+3439T>C
ENST00000555329.1:c.40T>C
NM_175748.3:c.795T>C NP_786924.2:p.Ser265=
NR_038150.1:n.897T>C
NM_175748.4:c.795T>C MANE Select NP_786924.2:p.Ser265=
NR_038150.2:n.697T>C