Canonical Allele Identifier: CA367826712
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1797766019
MyVariant Identifiers: chr7:g.73097359G>C (hg19) chr7:g.73683029G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683029G>C , CM000669.2:g.73683029G>C GRCh38
NC_000007.13:g.73097359G>C , CM000669.1:g.73097359G>C GRCh37
NC_000007.12:g.72735295G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.395C>G (DNAJC30) MANE Select ENSP00000378605.1:p.Ala132Gly
ENST00000395176.2:c.395C>G (DNAJC30) ENSP00000378605.1:p.Ala132Gly
ENST00000464615.1:n.5G>C (BUD23)
NM_032317.2:c.395C>G (DNAJC30) NP_115693.2:p.Ala132Gly
NM_032317.3:c.395C>G (DNAJC30) MANE Select NP_115693.2:p.Ala132Gly
Search 100 bp 5'
Search 100 bp 3'