Canonical Allele Identifier: CA1717166277
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683029G= , CM000669.2:g.73683029G= GRCh38
NC_000007.13:g.73097359G= , CM000669.1:g.73097359G= GRCh37
NC_000007.12:g.72735295G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.395C= (DNAJC30) MANE Select ENSP00000378605.1:p.Ala132=
ENST00000395176.2:c.395C= (DNAJC30) ENSP00000378605.1:p.Ala132=
ENST00000464615.1:n.5G= (BUD23)
NM_032317.2:c.395C= (DNAJC30) NP_115693.2:p.Ala132=
NM_032317.3:c.395C= (DNAJC30) MANE Select NP_115693.2:p.Ala132=
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