Canonical Allele Identifier: CA7319926
Gene: UBR7 HGNC NCBI

Linked Data

dbSNP Id: rs768592375
ExAC: 14:93685058 T / G
gnomAD v2: 14-93685058-T-G
gnomAD v3: 14-93218712-T-G
gnomAD v4: 14-93218712-T-G
MyVariant Identifiers: chr14:g.93685058T>G (hg19) chr14:g.93218712T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218712T>G , CM000676.2:g.93218712T>G GRCh38
NC_000014.8:g.93685058T>G , CM000676.1:g.93685058T>G GRCh37
NC_000014.7:g.92754811T>G NCBI36
NG_051089.1:g.16657T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.787T>G MANE Select ENSP00000013070.6:p.Ser263Ala
ENST00000013070.10:c.787T>G ENSP00000013070.6:p.Ser263Ala
ENST00000416753.5:c.559T>G ENSP00000391706.2:p.Ser187Ala
ENST00000553674.1:c.*488T>G ENSP00000450470.1:n.*488T>G
ENST00000553857.5:c.378+3431T>G
ENST00000555329.1:c.32T>G
NM_175748.3:c.787T>G NP_786924.2:p.Ser263Ala
NR_038150.1:n.889T>G
NM_175748.4:c.787T>G MANE Select NP_786924.2:p.Ser263Ala
NR_038150.2:n.689T>G
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