Canonical Allele Identifier: CA160072733
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs533049844
gnomAD v2: 7-73097701-A-T
gnomAD v3: 7-73683371-A-T
gnomAD v4: 7-73683371-A-T
MyVariant Identifiers: chr7:g.73097701A>T (hg19) chr7:g.73683371A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683371A>T , CM000669.2:g.73683371A>T GRCh38
NC_000007.13:g.73097701A>T , CM000669.1:g.73097701A>T GRCh37
NC_000007.12:g.72735637A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.53T>A (DNAJC30) MANE Select ENSP00000378605.1:p.Leu18Gln
ENST00000395176.2:c.53T>A (DNAJC30) ENSP00000378605.1:p.Leu18Gln
ENST00000464615.1:n.347A>T (BUD23)
NM_032317.2:c.53T>A (DNAJC30) NP_115693.2:p.Leu18Gln
NM_032317.3:c.53T>A (DNAJC30) MANE Select NP_115693.2:p.Leu18Gln
Search 100 bp 5'
Search 100 bp 3'