Canonical Allele Identifier: CA367828714
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.73097750C>G (hg19) chr7:g.73683420C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683420C>G , CM000669.2:g.73683420C>G GRCh38
NC_000007.13:g.73097750C>G , CM000669.1:g.73097750C>G GRCh37
NC_000007.12:g.72735686C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.4G>C (DNAJC30) MANE Select ENSP00000378605.1:p.Ala2Pro
ENST00000395176.2:c.4G>C (DNAJC30) ENSP00000378605.1:p.Ala2Pro
ENST00000464615.1:n.359+37C>G (BUD23)
NM_032317.2:c.4G>C (DNAJC30) NP_115693.2:p.Ala2Pro
NM_032317.3:c.4G>C (DNAJC30) MANE Select NP_115693.2:p.Ala2Pro
Search 100 bp 5'
Search 100 bp 3'