Canonical Allele Identifier: CA4289974
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs782807668
ExAC: 7:73097531 G / A
gnomAD v2: 7-73097531-G-A
gnomAD v4: 7-73683201-G-A
MyVariant Identifiers: chr7:g.73097531G>A (hg19) chr7:g.73683201G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683201G>A , CM000669.2:g.73683201G>A GRCh38
NC_000007.13:g.73097531G>A , CM000669.1:g.73097531G>A GRCh37
NC_000007.12:g.72735467G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.223C>T (DNAJC30) MANE Select ENSP00000378605.1:p.Leu75Phe
ENST00000395176.2:c.223C>T (DNAJC30) ENSP00000378605.1:p.Leu75Phe
ENST00000464615.1:n.177G>A (BUD23)
NM_032317.2:c.223C>T (DNAJC30) NP_115693.2:p.Leu75Phe
NM_032317.3:c.223C>T (DNAJC30) MANE Select NP_115693.2:p.Leu75Phe
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