Canonical Allele Identifier: CA2683240701
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

gnomAD v4: 7-73683441-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683441G>T , CM000669.2:g.73683441G>T GRCh38
NC_000007.13:g.73097771G>T , CM000669.1:g.73097771G>T GRCh37
NC_000007.12:g.72735707G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.-18C>A (DNAJC30) MANE Select ENSP00000378605.1:n.-18C>A
ENST00000395176.2:c.-18C>A (DNAJC30) ENSP00000378605.1:n.-18C>A
ENST00000464615.1:n.359+58G>T (BUD23)
NM_032317.2:c.-18C>A (DNAJC30) NP_115693.2:n.-18C>A
NM_032317.3:c.-18C>A (DNAJC30) MANE Select NP_115693.2:n.-18C>A
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