Canonical Allele Identifier: CA390811591
Gene: UBR7 HGNC NCBI

Linked Data

dbSNP Id: rs1894644094
MyVariant Identifiers: chr14:g.93685079C>A (hg19) chr14:g.93218733C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218733C>A , CM000676.2:g.93218733C>A GRCh38
NC_000014.8:g.93685079C>A , CM000676.1:g.93685079C>A GRCh37
NC_000014.7:g.92754832C>A NCBI36
NG_051089.1:g.16678C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.808C>A MANE Select ENSP00000013070.6:p.Gln270Lys
ENST00000013070.10:c.808C>A ENSP00000013070.6:p.Gln270Lys
ENST00000416753.5:c.580C>A ENSP00000391706.2:p.Gln194Lys
ENST00000553674.1:c.*509C>A ENSP00000450470.1:n.*509C>A
ENST00000553857.5:c.378+3452C>A
ENST00000555329.1:c.53C>A
NM_175748.3:c.808C>A NP_786924.2:p.Gln270Lys
NR_038150.1:n.910C>A
NM_175748.4:c.808C>A MANE Select NP_786924.2:p.Gln270Lys
NR_038150.2:n.710C>A
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