Canonical Allele Identifier: CA160072733

Gene: DNAJC30 BUD23

Linked Data

• dbSNP Id: rs533049844
• gnomAD v2: 7-73097701-A-T
• gnomAD v3: 7-73683371-A-T
• gnomAD v4: 7-73683371-A-T
• MyVariant Identifiers: chr7:g.73097701A>T (hg19) ; chr7:g.73683371A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683371A>T , CM000669.2:g.73683371A>T	GRCh38
NC_000007.13:g.73097701A>T , CM000669.1:g.73097701A>T	GRCh37
NC_000007.12:g.72735637A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.53T>A (DNAJC30) MANE Select	ENSP00000378605.1:p.Leu18Gln
ENST00000395176.2:c.53T>A (DNAJC30)	ENSP00000378605.1:p.Leu18Gln
ENST00000464615.1:n.347A>T (BUD23)
NM_032317.2:c.53T>A (DNAJC30)	NP_115693.2:p.Leu18Gln
NM_032317.3:c.53T>A (DNAJC30) MANE Select	NP_115693.2:p.Leu18Gln