Canonical Allele Identifier: CA2581190518
Gene: UBR7 HGNC NCBI

Linked Data

gnomAD v4: 14-93218751-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218751C>A , CM000676.2:g.93218751C>A GRCh38
NC_000014.8:g.93685097C>A , CM000676.1:g.93685097C>A GRCh37
NC_000014.7:g.92754850C>A NCBI36
NG_051089.1:g.16696C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.810+16C>A MANE Select ENSP00000013070.6:n.810+16C>A
ENST00000013070.10:c.810+16C>A ENSP00000013070.6:n.810+16C>A
ENST00000416753.5:c.582+16C>A ENSP00000391706.2:n.582+16C>A
ENST00000553674.1:c.*511+16C>A ENSP00000450470.1:n.*511+16C>A
ENST00000553857.5:c.378+3470C>A
ENST00000555329.1:c.55+16C>A
NM_175748.3:c.810+16C>A NP_786924.2:n.810+16C>A
NR_038150.1:n.912+16C>A
NM_175748.4:c.810+16C>A MANE Select NP_786924.2:n.810+16C>A
NR_038150.2:n.712+16C>A
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