Canonical Allele Identifier: CA4289932
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

ClinVar Variation Id: 2657565
ClinVar RCV Id: RCV003433867
dbSNP Id: rs782179907
ExAC: 7:73097357 G / A
gnomAD v2: 7-73097357-G-A
gnomAD v3: 7-73683027-G-A
gnomAD v4: 7-73683027-G-A
MyVariant Identifiers: chr7:g.73097357G>A (hg19) chr7:g.73683027G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683027G>A , CM000669.2:g.73683027G>A GRCh38
NC_000007.13:g.73097357G>A , CM000669.1:g.73097357G>A GRCh37
NC_000007.12:g.72735293G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.397C>T (DNAJC30) MANE Select ENSP00000378605.1:p.Pro133Ser
ENST00000395176.2:c.397C>T (DNAJC30) ENSP00000378605.1:p.Pro133Ser
ENST00000464615.1:n.3G>A (BUD23)
NM_032317.2:c.397C>T (DNAJC30) NP_115693.2:p.Pro133Ser
NM_032317.3:c.397C>T (DNAJC30) MANE Select NP_115693.2:p.Pro133Ser
Search 100 bp 5'
Search 100 bp 3'