Canonical Allele Identifier: CA456052983
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.73097394C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683064C>G , CM000669.2:g.73683064C>G GRCh38
NC_000007.13:g.73097394C>G , CM000669.1:g.73097394C>G GRCh37
NC_000007.12:g.72735330C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.360G>C (DNAJC30) MANE Select ENSP00000378605.1:p.Leu120=
ENST00000395176.2:c.360G>C (DNAJC30) ENSP00000378605.1:p.Leu120=
ENST00000464615.1:n.40C>G (BUD23)
NM_032317.2:c.360G>C (DNAJC30) NP_115693.2:p.Leu120=
NM_032317.3:c.360G>C (DNAJC30) MANE Select NP_115693.2:p.Leu120=
Search 100 bp 5'
Search 100 bp 3'