Canonical Allele Identifier: CA4289943
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs782286532
ExAC: 7:73097406 G / T
gnomAD v2: 7-73097406-G-T
gnomAD v3: 7-73683076-G-T
gnomAD v4: 7-73683076-G-T
MyVariant Identifiers: chr7:g.73097406G>T (hg19) chr7:g.73683076G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683076G>T , CM000669.2:g.73683076G>T GRCh38
NC_000007.13:g.73097406G>T , CM000669.1:g.73097406G>T GRCh37
NC_000007.12:g.72735342G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.348C>A (DNAJC30) MANE Select ENSP00000378605.1:p.Ser116Arg
ENST00000395176.2:c.348C>A (DNAJC30) ENSP00000378605.1:p.Ser116Arg
ENST00000464615.1:n.52G>T (BUD23)
NM_032317.2:c.348C>A (DNAJC30) NP_115693.2:p.Ser116Arg
NM_032317.3:c.348C>A (DNAJC30) MANE Select NP_115693.2:p.Ser116Arg
Search 100 bp 5'
Search 100 bp 3'