Canonical Allele Identifier: CA4289991

Gene: DNAJC30 BUD23

Linked Data

• dbSNP Id: rs551851582
• ExAC: 7:73097606 G / A
• gnomAD v2: 7-73097606-G-A
• gnomAD v3: 7-73683276-G-A
• gnomAD v4: 7-73683276-G-A
• MyVariant Identifiers: chr7:g.73097606G>A (hg19) ; chr7:g.73683276G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683276G>A , CM000669.2:g.73683276G>A	GRCh38
NC_000007.13:g.73097606G>A , CM000669.1:g.73097606G>A	GRCh37
NC_000007.12:g.72735542G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.148C>T (DNAJC30) MANE Select	ENSP00000378605.1:p.Leu50=
ENST00000395176.2:c.148C>T (DNAJC30)	ENSP00000378605.1:p.Leu50=
ENST00000464615.1:n.252G>A (BUD23)
NM_032317.2:c.148C>T (DNAJC30)	NP_115693.2:p.Leu50=
NM_032317.3:c.148C>T (DNAJC30) MANE Select	NP_115693.2:p.Leu50=