Canonical Allele Identifier: CA7319915
Gene: UBR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2511555
ClinVar RCV Id: RCV003247821
dbSNP Id: rs149329359
ExAC: 14:93685007 G / A
gnomAD v2: 14-93685007-G-A
gnomAD v3: 14-93218661-G-A
gnomAD v4: 14-93218661-G-A
MyVariant Identifiers: chr14:g.93685007G>A (hg19) chr14:g.93218661G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218661G>A , CM000676.2:g.93218661G>A GRCh38
NC_000014.8:g.93685007G>A , CM000676.1:g.93685007G>A GRCh37
NC_000014.7:g.92754760G>A NCBI36
NG_051089.1:g.16606G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000013070.11:c.736G>A MANE Select ENSP00000013070.6:p.Asp246Asn
ENST00000013070.10:c.736G>A ENSP00000013070.6:p.Asp246Asn
ENST00000416753.5:c.508G>A ENSP00000391706.2:p.Asp170Asn
ENST00000553674.1:c.*437G>A ENSP00000450470.1:n.*437G>A
ENST00000553857.5:c.378+3380G>A
ENST00000556871.5:c.445G>A ENSP00000451022.1:p.Asp149Asn
NM_175748.3:c.736G>A NP_786924.2:p.Asp246Asn
NR_038150.1:n.838G>A
NM_175748.4:c.736G>A MANE Select NP_786924.2:p.Asp246Asn
NR_038150.2:n.638G>A
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