Canonical Allele Identifier: CA390811082
Gene: UBR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.93685000G>C (hg19) chr14:g.93218654G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218654G>C , CM000676.2:g.93218654G>C GRCh38
NC_000014.8:g.93685000G>C , CM000676.1:g.93685000G>C GRCh37
NC_000014.7:g.92754753G>C NCBI36
NG_051089.1:g.16599G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000013070.11:c.729G>C MANE Select ENSP00000013070.6:p.Gln243His
ENST00000013070.10:c.729G>C ENSP00000013070.6:p.Gln243His
ENST00000416753.5:c.501G>C ENSP00000391706.2:p.Gln167His
ENST00000553674.1:c.*430G>C ENSP00000450470.1:n.*430G>C
ENST00000553857.5:c.378+3373G>C
ENST00000556871.5:c.438G>C ENSP00000451022.1:p.Gln146His
NM_175748.3:c.729G>C NP_786924.2:p.Gln243His
NR_038150.1:n.831G>C
NM_175748.4:c.729G>C MANE Select NP_786924.2:p.Gln243His
NR_038150.2:n.631G>C
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