Canonical Allele Identifier: CA4289968

Gene: DNAJC30 BUD23

Linked Data

• dbSNP Id: rs782375282
• ExAC: 7:73097508 G / C
• gnomAD v2: 7-73097508-G-C
• gnomAD v3: 7-73683178-G-C
• gnomAD v4: 7-73683178-G-C
• MyVariant Identifiers: chr7:g.73097508G>C (hg19) ; chr7:g.73683178G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683178G>C , CM000669.2:g.73683178G>C	GRCh38
NC_000007.13:g.73097508G>C , CM000669.1:g.73097508G>C	GRCh37
NC_000007.12:g.72735444G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.246C>G (DNAJC30) MANE Select	ENSP00000378605.1:p.Ser82=
ENST00000395176.2:c.246C>G (DNAJC30)	ENSP00000378605.1:p.Ser82=
ENST00000464615.1:n.154G>C (BUD23)
NM_032317.2:c.246C>G (DNAJC30)	NP_115693.2:p.Ser82=
NM_032317.3:c.246C>G (DNAJC30) MANE Select	NP_115693.2:p.Ser82=