Canonical Allele Identifier: CA456052910
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

gnomAD v4: 7-73683034-C-T
MyVariant Identifiers: chr7:g.73097364C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683034C>T , CM000669.2:g.73683034C>T GRCh38
NC_000007.13:g.73097364C>T , CM000669.1:g.73097364C>T GRCh37
NC_000007.12:g.72735300C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.390G>A (DNAJC30) MANE Select ENSP00000378605.1:p.Thr130=
ENST00000395176.2:c.390G>A (DNAJC30) ENSP00000378605.1:p.Thr130=
ENST00000464615.1:n.10C>T (BUD23)
NM_032317.2:c.390G>A (DNAJC30) NP_115693.2:p.Thr130=
NM_032317.3:c.390G>A (DNAJC30) MANE Select NP_115693.2:p.Thr130=
Search 100 bp 5'
Search 100 bp 3'