Canonical Allele Identifier: CA2002705525
Gene: BUD13 HGNC NCBI

Linked Data

dbSNP Id: rs1591293302
gnomAD v4: 11-116748247-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116748247A>G , CM000673.2:g.116748247A>G GRCh38
NC_000011.9:g.116618963A>G , CM000673.1:g.116618963A>G GRCh37
NC_000011.8:g.116124173A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260210.5:c.*235T>C MANE Select ENSP00000260210.3:n.*235T>C
ENST00000260210.4:c.*235T>C ENSP00000260210.3:n.*235T>C
ENST00000375445.7:c.*235T>C ENSP00000364594.3:n.*235T>C
ENST00000419189.1:c.870T>C
NM_001159736.1:c.*235T>C NP_001153208.1:n.*235T>C
NM_032725.3:c.*235T>C NP_116114.1:n.*235T>C
XM_011543035.1:c.*235T>C XP_011541337.1:n.*235T>C
XM_011543035.2:c.*235T>C XP_011541337.1:n.*235T>C
NM_032725.4:c.*235T>C MANE Select NP_116114.1:n.*235T>C
NM_001159736.2:c.*235T>C NP_001153208.1:n.*235T>C
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