Canonical Allele Identifier: CA367828742
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1554611884
gnomAD v2: 7-73097753-T-A
gnomAD v4: 7-73683423-T-A
MyVariant Identifiers: chr7:g.73097753T>A (hg19) chr7:g.73683423T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683423T>A , CM000669.2:g.73683423T>A GRCh38
NC_000007.13:g.73097753T>A , CM000669.1:g.73097753T>A GRCh37
NC_000007.12:g.72735689T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.1A>T (DNAJC30) MANE Select ENSP00000378605.1:p.Met1Leu
ENST00000395176.2:c.1A>T (DNAJC30) ENSP00000378605.1:p.Met1Leu
ENST00000464615.1:n.359+40T>A (BUD23)
NM_032317.2:c.1A>T (DNAJC30) NP_115693.2:p.Met1Leu
NM_032317.3:c.1A>T (DNAJC30) MANE Select NP_115693.2:p.Met1Leu
Search 100 bp 5'
Search 100 bp 3'