Canonical Allele Identifier: CA456052990
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1554611675
gnomAD v2: 7-73097396-G-A
gnomAD v4: 7-73683066-G-A
MyVariant Identifiers: chr7:g.73097396G>A (hg19) chr7:g.73683066G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683066G>A , CM000669.2:g.73683066G>A GRCh38
NC_000007.13:g.73097396G>A , CM000669.1:g.73097396G>A GRCh37
NC_000007.12:g.72735332G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.358C>T (DNAJC30) MANE Select ENSP00000378605.1:p.Leu120=
ENST00000395176.2:c.358C>T (DNAJC30) ENSP00000378605.1:p.Leu120=
ENST00000464615.1:n.42G>A (BUD23)
NM_032317.2:c.358C>T (DNAJC30) NP_115693.2:p.Leu120=
NM_032317.3:c.358C>T (DNAJC30) MANE Select NP_115693.2:p.Leu120=
Search 100 bp 5'
Search 100 bp 3'