Canonical Allele Identifier: CA4289939
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

ClinVar Variation Id: 2472369
ClinVar RCV Id: RCV004261964
dbSNP Id: rs782611917
ExAC: 7:73097380 A / G
gnomAD v2: 7-73097380-A-G
gnomAD v3: 7-73683050-A-G
gnomAD v4: 7-73683050-A-G
MyVariant Identifiers: chr7:g.73097380A>G (hg19) chr7:g.73683050A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683050A>G , CM000669.2:g.73683050A>G GRCh38
NC_000007.13:g.73097380A>G , CM000669.1:g.73097380A>G GRCh37
NC_000007.12:g.72735316A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.374T>C (DNAJC30) MANE Select ENSP00000378605.1:p.Val125Ala
ENST00000395176.2:c.374T>C (DNAJC30) ENSP00000378605.1:p.Val125Ala
ENST00000464615.1:n.26A>G (BUD23)
NM_032317.2:c.374T>C (DNAJC30) NP_115693.2:p.Val125Ala
NM_032317.3:c.374T>C (DNAJC30) MANE Select NP_115693.2:p.Val125Ala
Search 100 bp 5'
Search 100 bp 3'