Canonical Allele Identifier: CA367828534
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1797785284
gnomAD v4: 7-73683396-G-A
MyVariant Identifiers: chr7:g.73097726G>A (hg19) chr7:g.73683396G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683396G>A , CM000669.2:g.73683396G>A GRCh38
NC_000007.13:g.73097726G>A , CM000669.1:g.73097726G>A GRCh37
NC_000007.12:g.72735662G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.28C>T (DNAJC30) MANE Select ENSP00000378605.1:p.Gln10Ter
ENST00000395176.2:c.28C>T (DNAJC30) ENSP00000378605.1:p.Gln10Ter
ENST00000464615.1:n.359+13G>A (BUD23)
NM_032317.2:c.28C>T (DNAJC30) NP_115693.2:p.Gln10Ter
NM_032317.3:c.28C>T (DNAJC30) MANE Select NP_115693.2:p.Gln10Ter
Search 100 bp 5'
Search 100 bp 3'