Canonical Allele Identifier: CA7319930
Gene: UBR7 HGNC NCBI

Linked Data

dbSNP Id: rs559563124
ExAC: 14:93685101 C / T
gnomAD v2: 14-93685101-C-T
gnomAD v3: 14-93218755-C-T
gnomAD v4: 14-93218755-C-T
MyVariant Identifiers: chr14:g.93685101C>T (hg19) chr14:g.93218755C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218755C>T , CM000676.2:g.93218755C>T GRCh38
NC_000014.8:g.93685101C>T , CM000676.1:g.93685101C>T GRCh37
NC_000014.7:g.92754854C>T NCBI36
NG_051089.1:g.16700C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.810+20C>T MANE Select ENSP00000013070.6:n.810+20C>T
ENST00000013070.10:c.810+20C>T ENSP00000013070.6:n.810+20C>T
ENST00000416753.5:c.582+20C>T ENSP00000391706.2:n.582+20C>T
ENST00000553674.1:c.*511+20C>T ENSP00000450470.1:n.*511+20C>T
ENST00000553857.5:c.378+3474C>T
ENST00000555329.1:c.55+20C>T
NM_175748.3:c.810+20C>T NP_786924.2:n.810+20C>T
NR_038150.1:n.912+20C>T
NM_175748.4:c.810+20C>T MANE Select NP_786924.2:n.810+20C>T
NR_038150.2:n.712+20C>T
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