Canonical Allele Identifier: CA4290042

Gene: DNAJC30 BUD23

Linked Data

• dbSNP Id: rs782744575
• ExAC: 7:73097779 A / G
• gnomAD v2: 7-73097779-A-G
• gnomAD v3: 7-73683449-A-G
• gnomAD v4: 7-73683449-A-G
• MyVariant Identifiers: chr7:g.73097779A>G (hg19) ; chr7:g.73683449A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683449A>G , CM000669.2:g.73683449A>G	GRCh38
NC_000007.13:g.73097779A>G , CM000669.1:g.73097779A>G	GRCh37
NC_000007.12:g.72735715A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.-26T>C (DNAJC30) MANE Select	ENSP00000378605.1:n.-26T>C
ENST00000395176.2:c.-26T>C (DNAJC30)	ENSP00000378605.1:n.-26T>C
ENST00000464615.1:n.359+66A>G (BUD23)
NM_032317.2:c.-26T>C (DNAJC30)	NP_115693.2:n.-26T>C
NM_032317.3:c.-26T>C (DNAJC30) MANE Select	NP_115693.2:n.-26T>C